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.V131F

c.391G>T

Surrounding Variants

1 paper

NM_000535.7

p.V131I

c.391G>A

1 paper

NM_000535.7

p.K130N

c.390G>T

1 paper

NM_000535.7

p.K130N

c.390G>C

1 paper

NM_000535.7

p.K130delFs

c.388delT

3 papers

NM_000535.7

p.K130delFs

c.388_389delTT

1 paper

NM_000535.7

p.V131_G132insFs

c.393_394insC

1 paper

NM_000535.7

p.A129_K130delFs

c.387_388delTC

2 papers

NM_000535.7

p.G132R

c.394G>C

1 paper

NM_000535.7

p.V131delFs

c.393delA

2 papers

NM_000535.7

p.S123_V131del9

c.367_392del27

1 paper

NM_000535.7

p.A129delFs

c.387delC

1 paper

NM_000535.7

p.G132A

c.395G>C