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.T408T

c.1224T>G

Surrounding Variants

1 paper

NM_000535.7

p.T408fs

c.1222_1223fs

1 paper

NM_000535.7

p.T408delFs

c.1223delG

1 paper

NM_000535.7

p.L406_T408insFs

c.1217_1223dup7

1 paper

NM_000535.7

p.T408I

c.1223C>T

1 paper

NM_000535.7

p.T408insFs

c.1222dupA

1 paper

NM_000535.7

p.R407_T408delFs

c.1221_1222delTC

1 paper

NM_000535.7

p.T408fs

c.1222_1223fs

1 paper

NM_000535.7

p.T408insFs

c.1222_1223insTT

13 papers

NM_000535.7

p.R407delFs

c.1221delC

1 paper

NM_000535.7

p.P404_R407del4

c.1210_1220del12

3 papers

NM_000535.7

p.E410*

c.1228G>T

1 paper

NM_000535.7

p.L406_R407insFs

c.1216_1219dup4