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

36 papers

NM_000535.7

p.Q643*

c.1927C>T

Surrounding Variants

1 paper

NM_000535.7

p.E642insFs

c.1926dupA

1 paper

NM_000535.7

p.Q638_E642insFs

c.1913_1926dup14

2 papers

NM_000535.7

p.Q643R

c.1928A>G

1 paper

NM_000535.7

p.Q643delFs

c.1927delG

1 paper

NM_000535.7

p.E642_Q643Fs

c.1924_1928delinsTTTCFs

1 paper

NM_000535.7

p.E642delFs

c.1924_1925delTC

1 paper

NM_000535.7

p.G641insFs

c.1921dupG

2 papers

NM_000535.7

p.E642delFs

c.1924delC

1 paper

NM_000535.7

p.N644fs

c.1930_1931fs

2 papers

NM_000535.7

p.E642*

c.1924G>T

1 paper

NM_000535.7

p.E642Q

c.1924G>C

1 paper

NM_000535.7

p.Q643insFs

c.1929dupG