Table 3 Top 20 pfsSNVs 1 based on the number of associated cancer type count.

From: Distribution bias analysis of germline and somatic single-nucleotide variations that impact protein functional site and neighboring amino acids

Gene Name

UnProtKB AC

Variation

Functional Site

Cancer Type Count

TP53

P04637

R273C

Binding Site

31

TP53

P04637

R248Q

Binding Site

28

TP53

P04637

R248W

Binding Site

28

TP53

P04637

R273H

Binding Site

27

TP53

P04637

H179Y

Binding Site

26

NRAS

P01111

Q61K

Binding Site

24

TP53

P04637

C176F

Binding Site

23

TP53

P04637

C275Y

Binding Site

22

NRAS

P01111

Q61R

Binding Site

21

CTNNB1

P35222

T41A

Phosphorylation

21

TP53

P04637

C176Y

Binding Site

20

TP53

P04637

H179R

Binding Site

20

TP53

P04637

K132N

Ubiquitylation

19

TP53

P04637

C238F

Binding Site

19

TP53

P04637

C242F

Binding Site

19

TP53

P04637

R248L

Binding Site

19

TP53

P04637

S241F

Binding Site

18

TP53

P04637

C242Y

Binding Site

18

CTNNB1

P35222

S33C

Phosphorylation

18

TP53

P04637

C238Y

Binding Site

17

  1. 1pfsSNV: Protein functional site affecting SNV.