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.N644fs

c.1930_1931fs

Surrounding Variants

1 paper

NM_000535.7

p.N644delFs

c.1930delT

1 paper

NM_000535.7

p.E642_N644delFs

c.1926_1930del5

1 paper

NM_000535.7

p.Q643_N644del2

c.1927_1931del6

1 paper

NM_000535.7

p.N644T

c.1931A>C

1 paper

NM_000535.7

p.Q643_N644delFs

c.1929_1930delTC

1 paper

NM_000535.7

p.N644fs

c.1930_1931fs

1 paper

NM_000535.7

p.Y645C

c.1934A>G

1 paper

NM_000535.7

p.Q643insFs

c.1929dupG

1 paper

NM_000535.7

p.Y645delFs

c.1933delA

2 papers

NM_000535.7

p.Q643delFs

c.1929delC

1 paper

NM_000535.7

p.R646fs

c.1936_1937fs

2 papers

NM_000535.7

p.Q643R

c.1928A>G