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.Q638_F648insFs

c.1914_1942dup29

Surrounding Variants

1 paper

NM_000535.7

p.F648S

c.1943T>C

1 paper

NM_000535.7

p.R649M

c.1946G>T

1 paper

NM_000535.7

p.R649K

c.1946G>A

1 paper

NM_000535.7

p.F648_R649delFs

c.1942_1945del4

1 paper

NM_000535.7

p.R646_R649insFs

c.1938_1945dup8

1 paper

NM_000535.7

p.K647fs

c.1939_1940fs

24 papers

NM_000535.7

p.K647*

c.1939A>T

1 paper

NM_000535.7

p.R646delFs

c.1937delC

1 paper

NM_000535.7

p.R646S

c.1938G>C

6 papers

NM_000535.7

p.R646M

c.1937G>T

1 paper

NM_000535.7

p.R646K

c.1937G>A

1 paper

NM_000535.7

p.R646delFs

c.1936delT