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.I818V

c.2452A>G

Surrounding Variants

2 papers

NM_000535.7

p.I818T

c.2453T>C

1 paper

NM_000535.7

p.V816E

c.2447T>A

1 paper

NM_000535.7

p.V816delFs

c.2446delC

2 papers

NM_000535.7

p.T820fs

c.2458_2459fs

1 paper

NM_000535.7

p.V816M

c.2446G>A

1 paper

NM_000535.7

p.V816fs

c.2446_2447fs

1 paper

NM_000535.7

p.T820A

c.2458A>G

1 paper

NM_000535.7

p.S815_V816Splc

c.2446-1G>T

2 papers

NM_000535.7

p.S815_V816Splc

c.2446-1G>A

1 paper

NM_000535.7

p.T820I

c.2459C>T

4 papers

NM_000535.7

p.T820insFs

c.2458dupA

2 papers

NM_000535.7

p.S815_V816Splc

c.2446-2A>G