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.F291_I292delFs

c.873_876del4

Surrounding Variants

1 paper

NM_000535.7

p.N293fs

c.877_878fs

3 papers

NM_000535.7

p.I292_N293insFs

c.876_877insC

1 paper

NM_000535.7

p.I292delFs

c.876delG

4 papers

NM_000535.7

p.I292M

c.876C>G

1 paper

NM_000535.7

p.F291_I292delFs

c.873_874delTA

2 papers

NM_000535.7

p.N293S

c.878A>G

1 paper

NM_000535.7

p.F290_I292delFs

c.870_874del5

1 paper

NM_000535.7

p.N293K

c.879C>G

1 paper

NM_000535.7

p.N293insFs

c.878dupA

4 papers

NM_000535.7

p.R294W

c.880C>T

2 papers

NM_000535.7

p.R294G

c.880C>G

1 paper

NM_000535.7

p.R294R

c.880C>A