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.R294_P296insFs

c.880_887dup8

Surrounding Variants

1 paper

NM_000535.7

p.P296insFs

c.887dupC

2 papers

NM_000535.7

p.P296fs

c.886_887fs

1 paper

NM_000535.7

p.C297insFs

c.889_890insAT

1 paper

NM_000535.7

p.R294_R295del2

c.880_884del6

1 paper

NM_000535.7

p.C297insFs

c.890_891insAT

1 paper

NM_000535.7

p.P296delFs

c.888delA

1 paper

NM_000535.7

p.P296_C297Fs

c.887_891delinsACTTTTTCAGTATATGACTACTTTTGACTACTTTTTFs

1 paper

NM_000535.7

p.P296S

c.886C>T

1 paper

NM_000535.7

p.R295insFs

c.885dupG

1 paper

NM_000535.7

p.C297*

c.891T>A

2 papers

NM_000535.7

p.R295_P296insFs

c.885_886insT

4 papers

NM_000535.7

p.R295Q

c.884G>A