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.D464delFs

c.1392delG

Surrounding Variants

1 paper

NM_000535.7

p.K465I

c.1394A>T

4 papers

NM_000535.7

p.K465R

c.1394A>G

1 paper

NM_000535.7

p.K465N

c.1395A>T

1 paper

NM_000535.7

p.D464delFs

c.1390delC

1 paper

NM_000535.7

p.S463_D464delFs

c.1389_1390delCA

1 paper

NM_000535.7

p.D464Y

c.1390G>T

1 paper

NM_000535.7

p.K465insFs

c.1394dupA

1 paper

NM_000535.7

p.G466S

c.1396G>A

2 papers

NM_000535.7

p.K465delFs

c.1395delT

1 paper

NM_000535.7

p.G466A

c.1397G>C

4 papers

NM_000535.7

p.G466G

c.1398C>T

2 papers

NM_000535.7

p.G466fs

c.1396_1397fs