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

16 papers

NM_000535.7

p.Q317*

c.949C>T

Surrounding Variants

1 paper

NM_000535.7

p.H316delFs

c.947_948delGT

1 paper

NM_000535.7

p.H316Q

c.948C>G

1 paper

NM_000535.7

p.H316Q

c.948C>A

2 papers

NM_000535.7

p.H316delFs

c.948delG

1 paper

NM_000535.7

p.Q317Q

c.951G>A

1 paper

NM_000535.7

p.Y318_P319ins10

c.952_956ins30

1 paper

NM_000535.7

p.R315insFs

c.945dupA

1 paper

NM_000535.7

p.N314_R315delFs

c.942_945del4

1 paper

NM_000535.7

p.H316fs

c.946_947fs

1 paper

NM_000535.7

p.Y318Fs

c.953delinsTGTFs

11 papers

NM_000535.7

p.Y318C

c.953A>G

1 paper

NM_000535.7

p.R315delFs

c.944delC