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

4 papers

NM_000535.7

p.G779R

c.2335G>A

Surrounding Variants

4 papers

NM_000535.7

p.G779R

c.2335G>C

1 paper

NM_000535.7

p.F778Fs

c.2333_2334delinsTFs

3 papers

NM_000535.7

p.F778F

c.2334C>T

2 papers

NM_000535.7

p.F778insFs

c.2332dupT

2 papers

NM_000535.7

p.F778fs

c.2332_2333fs

1 paper

NM_000535.7

p.F778L

c.2334C>A

1 paper

NM_000535.7

p.F778delFs

c.2332delA

1 paper

NM_000535.7

p.G779insFs

c.2335dupG

3 papers

NM_000535.7

p.T777insFs

c.2331dupC

1 paper

NM_000535.7

p.F778I

c.2332T>A

3 papers

NM_000535.7

p.P780S

c.2338C>T

1 paper

NM_000535.7

p.P780fs

c.2338_2339fs