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.L420L

c.1258C>T

Surrounding Variants

1 paper

NM_000535.7

p.L420M

c.1258C>A

1 paper

NM_000535.7

p.S416_R419insFs

c.1247_1257dup11

1 paper

NM_000535.7

p.L420delFs

c.1258delG

1 paper

NM_000535.7

p.S418_R419delFs

c.1254_1257del4

1 paper

NM_000535.7

p.E411_S418insFs

c.1233_1254dup22

1 paper

NM_000535.7

p.R419T

c.1256G>C

1 paper

NM_000535.7

p.S418_R419delFs

c.1254_1255delTG

27 papers

NM_000535.7

p.R421*

c.1261C>T

1 paper

NM_000535.7

p.R421Fs

c.1261delinsTATFs

1 paper

NM_000535.7

p.R421G

c.1261C>G

1 paper

NM_000535.7

p.R421R

c.1261C>A

1 paper

NM_000535.7

p.G409_L420delFs

c.1225_1259del35