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.S418insFs

c.1252dupT

Surrounding Variants

5 papers

NM_000535.7

p.S418F

c.1253C>T

1 paper

NM_000535.7

p.S418A

c.1252T>G

1 paper

NM_000535.7

p.S418P

c.1252T>C

1 paper

NM_000535.7

p.S418delFs

c.1252_1253delGA

1 paper

NM_000535.7

p.I417_S418delFs

c.1249_1253del5

1 paper

NM_000535.7

p.I417M

c.1251T>G

1 paper

NM_000535.7

p.S418insFs

c.1253dupC

1 paper

NM_000535.7

p.I417delFs

c.1249delT

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

1 paper

NM_000535.7

p.I417V

c.1249A>G