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.S445delFs

c.1333delT

Surrounding Variants

1 paper

NM_000535.7

p.S445R

c.1335C>A

1 paper

NM_000535.7

p.S445delFs

c.1334delC

1 paper

NM_000535.7

p.S445delFs

c.1333_1334delCT

1 paper

NM_000535.7

p.S445fs

c.1333_1334fs

1 paper

NM_000535.7

p.R444insFs

c.1331dupG

1 paper

NM_000535.7

p.R444delFs

c.1332delC

1 paper

NM_000535.7

p.P446T

c.1336C>A

1 paper

NM_000535.7

p.R444K

c.1331G>A

1 paper

NM_000535.7

p.P446delFs

c.1336_1337delGG

1 paper

NM_000535.7

p.P442_R443del2

c.1324_1328del6

1 paper

NM_000535.7

p.L447L

c.1339C>T

1 paper

NM_000535.7

p.R443insFs

c.1328dupG