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

3 papers

NM_000535.7

p.R563R

c.1689A>G

Surrounding Variants

4 papers

NM_000535.7

p.R563delins

c.1688_1689delinsAG

38 papers

NM_000535.7

p.R563L

c.1688G>T

1 paper

NM_000535.7

p.R563insFs

c.1687dupC

1 paper

NM_000535.7

p.R563insFs

c.1689dupA

18 papers

NM_000535.7

p.R563Q

c.1688G>A

1 paper

NM_000535.7

p.V564I

c.1690G>A

1 paper

NM_000535.7

p.R563delFs

c.1688_1689delTC

41 papers

NM_000535.7

p.R563*

c.1687C>T

1 paper

NM_000535.7

p.F562insFs

c.1686dupT

1 paper

NM_000535.7

p.R563R

c.1687C>A

1 paper

NM_000535.7

p.F562delFs

c.1686delA

1 paper

NM_000535.7

p.R563fs

c.1687_1688fs