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.G382A

c.1145G>C

Surrounding Variants

6 papers

NM_000535.7

p.G382fs

c.1144_1145fs

1 paper

NM_000535.7

p.G382V

c.1145G>T

9 papers

NM_000535.7

p.G382D

c.1145G>A

1 paper

NM_000535.7

p.G382insFs

c.1145dupG

1 paper

NM_000535.7

p.G382G

c.1146T>C

1 paper

NM_000535.7

p.G382delFs

c.1145delC

1 paper

NM_000535.7

p.G382R

c.1144G>C

2 papers

NM_000535.7

p.G382Splc

c.1145-1G>A

3 papers

NM_000535.7

p.G382Splc

c.1145-2A>G

1 paper

NM_000535.7

p.N383I

c.1148A>T

1 paper

NM_000535.7

p.N383delFs

c.1148delT

1 paper

NM_000535.7

p.L384I

c.1150T>A