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.Q25Q

c.75G>A

Surrounding Variants

1 paper

NM_000535.7

p.I26F

c.76A>T

1 paper

NM_000535.7

p.Q25insFs

c.75dupG

1 paper

NM_000535.7

p.Q25insFs

c.73_74insC

1 paper

NM_000535.7

p.Q25delFs

c.75delC

1 paper

NM_000535.7

p.K21_Q25delFs

c.63_75del13

1 paper

NM_000535.7

p.Q25delFs

c.73delG

1 paper

NM_000535.7

p.R20_Q25del0

c.59_73del15

1 paper

NM_000535.7

p.I26T

c.77T>C

1 paper

NM_000535.7

p.I26delFs

c.76delT

1 paper

NM_000535.7

p.Q25_I26delFs

c.73_76del4

5 papers

NM_000535.7

p.Q25*

c.73C>T

1 paper

NM_000535.7

p.H24insFs

c.71dupA