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

16 papers

NM_000535.7

p.A127T

c.379G>A

Surrounding Variants

2 papers

NM_000535.7

p.H126delFs

c.378delG

1 paper

NM_000535.7

p.A127V

c.380C>T

1 paper

NM_000535.7

p.H126H

c.378C>T

1 paper

NM_000535.7

p.H126Q

c.378C>G

1 paper

NM_000535.7

p.A127delFs

c.379delC

2 papers

NM_000535.7

p.H126delFs

c.377delT

1 paper

NM_000535.7

p.A127A

c.381A>T

2 papers

NM_000535.7

p.A127A

c.381A>G

1 paper

NM_000535.7

p.H126R

c.377A>G

1 paper

NM_000535.7

p.A127insFs

c.380dupC

2 papers

NM_000535.7

p.C125delFs

c.375delG

1 paper

NM_000535.7

p.T124_H126Fs

c.370_377delinsTFs