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.V397_E410del14

c.1189_1229del42

Surrounding Variants

1 paper

NM_000535.7

p.E410_E411Fs

c.1230_1232delinsTGFs

2 papers

NM_000535.7

p.E411*

c.1231G>T

1 paper

NM_000535.7

p.E411insFs

c.1231_1232insT

1 paper

NM_000535.7

p.E411Q

c.1231G>C

1 paper

NM_000535.7

p.E410delFs

c.1229delT

1 paper

NM_000535.7

p.E410_E411delFs

c.1230_1231delCT

1 paper

NM_000535.7

p.K412E

c.1234A>G

1 paper

NM_000535.7

p.G409_E410insFs

c.1227_1228dupAG

2 papers

NM_000535.7

p.G409delFs

c.1226_1227delTC

2 papers

NM_000535.7

p.K412R

c.1235A>G

3 papers

NM_000535.7

p.E410*

c.1228G>T

1 paper

NM_000535.7

p.E410Q

c.1228G>C