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.L135fs

c.403_404fs

Surrounding Variants

2 papers

NM_000535.7

p.L135V

c.403C>G

1 paper

NM_000535.7

p.R134insFs

c.402dupA

1 paper

NM_000535.7

p.L135P

c.404T>C

1 paper

NM_000535.7

p.S128_R134Fs

c.382_402delinsTFs

1 paper

NM_000535.7

p.L135insFs

c.404dupT

1 paper

NM_000535.7

p.L135_M136insFs

c.405_406insA

1 paper

NM_000535.7

p.R134Q

c.401G>A

1 paper

NM_000535.7

p.T133_R134del1

c.398_400delGAG

44 papers

NM_000535.7

p.R134*

c.400C>T

1 paper

NM_000535.7

p.T133delFs

c.399delA

1 paper

NM_000535.7

p.M136L

c.406A>T

4 papers

NM_000535.7

p.M136V

c.406A>G