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.P299delFs

c.895_896delGG

Surrounding Variants

1 paper

NM_000535.7

p.P299delFs

c.896delG

1 paper

NM_000535.7

p.P299R

c.896C>G

1 paper

NM_000535.7

p.P299insFs

c.896_897insG

1 paper

NM_000535.7

p.P299S

c.895C>T

1 paper

NM_000535.7

p.A300E

c.899C>A

1 paper

NM_000535.7

p.D298D

c.894C>T

1 paper

NM_000535.7

p.A300insFs

c.898_899dupGC

1 paper

NM_000535.7

p.K301fs

c.901_902fs

1 paper

NM_000535.7

p.K301*

c.901A>T

1 paper

NM_000535.7

p.K301R

c.902A>G

2 papers

NM_000535.7

p.K301T

c.902A>C

1 paper

NM_000535.7

p.C297*

c.891T>A