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

1 paper

NM_000535.7

p.D543E

c.1629C>A

Surrounding Variants

2 papers

NM_000535.7

p.D543D

c.1629C>T

1 paper

NM_000535.7

p.D543E

c.1629C>G

1 paper

NM_000535.7

p.D544N

c.1630G>A

1 paper

NM_000535.7

p.D543delFs

c.1628_1629delGT

1 paper

NM_000535.7

p.D543delFs

c.1627delC

1 paper

NM_000535.7

p.T542delFs

c.1626delA

1 paper

NM_000535.7

p.D543fs

c.1627_1628fs

1 paper

NM_000535.7

p.D544insFs

c.1630dupG

1 paper

NM_000535.7

p.S545fs

c.1633_1634fs

1 paper

NM_000535.7

p.T542I

c.1625C>T

2 papers

NM_000535.7

p.T542N

c.1625C>A

1 paper

NM_000535.7

p.K541delFs

c.1622delT