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.H479Y

c.1435C>T

Surrounding Variants

1 paper

NM_000535.7

p.S478insFs

c.1433_1434dupGT

1 paper

NM_000535.7

p.H479N

c.1435C>A

1 paper

NM_000535.7

p.S478delFs

c.1433_1434delAC

1 paper

NM_000535.7

p.S478fs

c.1432_1433fs

1 paper

NM_000535.7

p.S478T

c.1433G>C

2 papers

NM_000535.7

p.S478N

c.1433G>A

3 papers

NM_000535.7

p.H479H

c.1437C>T

44 papers

NM_000535.7

p.H479Q

c.1437C>G

40 papers

NM_000535.7

p.H479Q

c.1437C>A

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