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.D119N

c.355G>A

Surrounding Variants

1 paper

NM_000535.7

p.D119fs

c.355_356fs

1 paper

NM_000535.7

p.D119Y

c.355G>T

3 papers

NM_000535.7

p.S118S

c.354C>T

1 paper

NM_000535.7

p.D119A

c.356A>C

1 paper

NM_000535.7

p.D119insFs

c.356_357insT

1 paper

NM_000535.7

p.S118_D119insFs

c.354_355dupCG

1 paper

NM_000535.7

p.D119delFs

c.355delC

1 paper

NM_000535.7

p.S118_D119delFs

c.354_355delCG

1 paper

NM_000535.7

p.D119insFs

c.356dupA

10 papers

NM_000535.7

p.S118Splc

c.354-1G>A

2 papers

NM_000535.7

p.S118Splc

c.354-2A>G

1 paper

NM_000535.7

p.V120delFs

c.358delC