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.N432insFs

c.1295_1296insAA

Surrounding Variants

3 papers

NM_000535.7

p.K433*

c.1297A>T

1 paper

NM_000535.7

p.N432delFs

c.1296delG

1 paper

NM_000535.7

p.T430_E431delFs

c.1290_1291delCT

1 paper

NM_000535.7

p.N432fs

c.1294_1295fs

1 paper

NM_000535.7

p.K433R

c.1298A>G

1 paper

NM_000535.7

p.K433T

c.1298A>C

1 paper

NM_000535.7

p.E431insFs

c.1293dupG

1 paper

NM_000535.7

p.K433K

c.1299G>A

1 paper

NM_000535.7

p.P434S

c.1300C>T

1 paper

NM_000535.7

p.K433delFs

c.1299delC

1 paper

NM_000535.7

p.E431K

c.1291G>A

1 paper

NM_000535.7

p.T430delFs

c.1290delT