Varaico: Literature-Extracted Genetic Variants

PMS2

2,219 papers

RefSeq Summary

The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and ...

Pfam Domains

HATPase_c_3aa 33–162UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

DNA_mis_repairaa 114–228UCSCDNA mismatch repair protein, C-terminal domain

DNA_mis_repairaa 249–363UCSCDNA mismatch repair protein, C-terminal domain

MutL_Caa 544–687UCSCMutL C terminal dimerisation domain

Gene Aliases

HGNC Name

PMS1 homolog 2, mismatch repair system component

HGNC Previous Symbol

PMSL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000535.7

p.G480_P481insFs

c.1440_1441insA

Surrounding Variants

2 papers

NM_000535.7

p.P481R

c.1442C>G

1 paper

NM_000535.7

p.P481H

c.1442C>A

1 paper

NM_000535.7

p.G480insFs

c.1438dupG

1 paper

NM_000535.7

p.G480A

c.1439G>C

1 paper

NM_000535.7

p.G480_P481Fs

c.1438_1443delinsCGFs

2 papers

NM_000535.7

p.G480*

c.1438G>T

9 papers

NM_000535.7

p.G480R

c.1438G>C

8 papers

NM_000535.7

p.G480R

c.1438G>A

1 paper

NM_000535.7

p.S478_H479del2

c.1432_1436del6

3 papers

NM_000535.7

p.S482C

c.1444A>T

1 paper

NM_000535.7

p.S482G

c.1444A>G

1 paper

NM_000535.7

p.P481delFs

c.1441delG