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

2 papers

NM_000535.7

p.C276*

c.828C>A

Surrounding Variants

1 paper

NM_000535.7

p.C276C

c.828C>T

1 paper

NM_000535.7

p.C276insFs

c.826dupT

1 paper

NM_000535.7

p.C276Y

c.827G>A

1 paper

NM_000535.7

p.C276G

c.826T>G

2 papers

NM_000535.7

p.C276R

c.826T>C

3 papers

NM_000535.7

p.Y268_Q275delFs

c.804_825del22

3 papers

NM_000535.7

p.T277M

c.830C>T

7 papers

NM_000535.7

p.T277K

c.830C>A

1 paper

NM_000535.7

p.T277T

c.831G>A

1 paper

NM_000535.7

p.T277delFs

c.830delG

1 paper

NM_000535.7

p.Q275H

c.825A>T

24 papers

NM_000535.7

p.Q275Q

c.825A>G