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.H311delFs

c.932delT

Surrounding Variants

1 paper

NM_000535.7

p.E308_H311Fs

c.922_933delinsAFs

1 paper

NM_000535.7

p.M312fs

c.934_935fs

1 paper

NM_000535.7

p.M312L

c.934A>T

5 papers

NM_000535.7

p.M312V

c.934A>G

3 papers

NM_000535.7

p.H311R

c.932A>G

1 paper

NM_000535.7

p.M312L

c.934A>C

1 paper

NM_000535.7

p.Y310delFs

c.930delG

3 papers

NM_000535.7

p.M312T

c.935T>C

1 paper

NM_000535.7

p.M312delFs

c.934delT

2 papers

NM_000535.7

p.H311Y

c.931C>T

1 paper

NM_000535.7

p.Y310delFs

c.929_930delGT

4 papers

NM_000535.7

p.M312I

c.936G>T