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.S459delFs

c.1377delT

Surrounding Variants

2 papers

NM_000535.7

p.G460C

c.1378G>T

1 paper

NM_000535.7

p.S459insFs

c.1377dupA

2 papers

NM_000535.7

p.S456_S459del4

c.1366_1376del12

3 papers

NM_000535.7

p.G460D

c.1379G>A

2 papers

NM_000535.7

p.S459L

c.1376C>T

16 papers

NM_000535.7

p.S459*

c.1376C>G

16 papers

NM_000535.7

p.S459*

c.1376C>A

1 paper

NM_000535.7

p.S459delFs

c.1375delA

1 paper

NM_000535.7

p.G460insFs

c.1380dupT

1 paper

NM_000535.7

p.A461T

c.1381G>A

1 paper

NM_000535.7

p.S459fs

c.1375_1376fs

1 paper

NM_000535.7

p.T458delFs

c.1373delG