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.K438T

c.1313A>C

Surrounding Variants

1 paper

NM_000535.7

p.K438insFs

c.1312dupA

1 paper

NM_000535.7

p.P437_K438delFs

c.1310_1313del4

1 paper

NM_000535.7

p.K438E

c.1312A>G

1 paper

NM_000535.7

p.T439fs

c.1315_1316fs

2 papers

NM_000535.7

p.T439S

c.1315A>T

1 paper

NM_000535.7

p.S436insFs

c.1308dupC

1 paper

NM_000535.7

p.K438delFs

c.1314delC

1 paper

NM_000535.7

p.P437delFs

c.1310delG

1 paper

NM_000535.7

p.T439I

c.1316C>T

2 papers

NM_000535.7

p.T439S

c.1316C>G

1 paper

NM_000535.7

p.T439delFs

c.1316delG

2 papers

NM_000535.7

p.P437S

c.1309C>T