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.R287delFs

c.860delC

Surrounding Variants

1 paper

NM_000535.7

p.R287insFs

c.860dupG

11 papers

NM_000535.7

p.R287fs

c.859_860fs

1 paper

NM_000535.7

p.S284_R287delFs

c.850_860del11

2 papers

NM_000535.7

p.R287insFs

c.859dupA

1 paper

NM_000535.7

p.R287K

c.860G>A

3 papers

NM_000535.7

p.Q288fs

c.862_863fs

11 papers

NM_000535.7

p.Q288*

c.862C>T

1 paper

NM_000535.7

p.R287delFs

c.859_860delCT

2 papers

NM_000535.7

p.R287*

c.859A>T

1 paper

NM_000535.7

p.Q288R

c.863A>G

1 paper

NM_000535.7

p.R287G

c.859A>G

15 papers

NM_000535.7

p.R287fs

c.859_860fs