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

2 papers

NM_000535.7

p.Q781*

c.2341C>T

Surrounding Variants

3 papers

NM_000535.7

p.Q781fs

c.2341_2342fs

1 paper

NM_000535.7

p.Q781E

c.2341C>G

16 papers

NM_000535.7

p.P780P

c.2340C>T

3 papers

NM_000535.7

p.Q781insFs

c.2341dupC

1 paper

NM_000535.7

p.D782_V783insA

c.2344_2348ins3

3 papers

NM_000535.7

p.P780S

c.2338C>T

1 paper

NM_000535.7

p.P780fs

c.2338_2339fs

1 paper

NM_000535.7

p.D782G

c.2345A>G

1 paper

NM_000535.7

p.G779insFs

c.2335dupG

1 paper

NM_000535.7

p.D782D

c.2346C>T

4 papers

NM_000535.7

p.G779R

c.2335G>C

4 papers

NM_000535.7

p.V783I

c.2347G>A