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.L684insFs

c.2052dupG

Surrounding Variants

1 paper

NM_000535.7

p.G685A

c.2054G>C

1 paper

NM_000535.7

p.F686C

c.2057T>G

1 paper

NM_000535.7

p.G685*

c.2053G>T

1 paper

NM_000535.7

p.G685R

c.2053G>C

1 paper

NM_000535.7

p.G685R

c.2053G>A

1 paper

NM_000535.7

p.F682_L684delFs

c.2046_2052del7

1 paper

NM_000535.7

p.L684insFs

c.2050_2051dupCT

1 paper

NM_000535.7

p.L684L

c.2052G>C

1 paper

NM_000535.7

p.L684delFs

c.2050delG

1 paper

NM_000535.7

p.N683_L684del1

c.2048_2050delGGT

1 paper

NM_000535.7

p.I687_I688insT

c.2059_2063ins3

1 paper

NM_000535.7

p.I687delFs

c.2059delT