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.P844P

c.2532C>G

Surrounding Variants

1 paper

NM_000535.7

p.H845fs

c.2533_2534fs

2 papers

NM_000535.7

p.P844L

c.2531C>T

1 paper

NM_000535.7

p.P844_H845delins

c.2532_2533delinsCT

6 papers

NM_000535.7

p.H845D

c.2533C>G

6 papers

NM_000535.7

p.P844H

c.2531C>A

1 paper

NM_000535.7

p.C843_P844delFs

c.2529_2530delGA

1 paper

NM_000535.7

p.H845R

c.2534A>G

1 paper

NM_000535.7

p.P844insFs

c.2532dupC

2 papers

NM_000535.7

p.H845delFs

c.2533delG

1 paper

NM_000535.7

p.H845fs

c.2533_2534fs

1 paper

NM_000535.7

p.C843fs

c.2527_2528fs

1 paper

NM_000535.7

p.H845Q

c.2535T>G