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.Q471delFs

c.1413delC

Surrounding Variants

3 papers

NM_000535.7

p.K472*

c.1414A>T

1 paper

NM_000535.7

p.L468_Q471del4

c.1402_1412del12

1 paper

NM_000535.7

p.Q471insFs

c.1412dupA

1 paper

NM_000535.7

p.Q471_K472delFs

c.1411_1414del4

1 paper

NM_000535.7

p.K472_E473insFs

c.1416_1417ins37

1 paper

NM_000535.7

p.E473*

c.1417G>T

1 paper

NM_000535.7

p.K472insFs

c.1416dupA

2 papers

NM_000535.7

p.E473K

c.1417G>A

1 paper

NM_000535.7

p.E473fs

c.1417_1418fs

1 paper

NM_000535.7

p.K472delFs

c.1415_1416delTT

2 papers

NM_000535.7

p.Q471*

c.1411C>T

1 paper

NM_000535.7

p.L468_P470delFs

c.1404_1410del7