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.S669R

c.2007T>A

Surrounding Variants

1 paper

NM_000535.7

p.S669I

c.2006G>T

1 paper

NM_000535.7

p.S669Splc

c.2007-1G>C

5 papers

NM_000535.7

p.S669Splc

c.2007-1G>A

2 papers

NM_000535.7

p.K670E

c.2008A>G

2 papers

NM_000535.7

p.K670fs

c.2008_2009fs

11 papers

NM_000535.7

p.S669Splc

c.2007-2A>G

3 papers

NM_000535.7

p.S669Splc

c.2007-2A>C

1 paper

NM_000535.7

p.S669Splc

c.2007-4G>C

20 papers

NM_000535.7

p.S669Splc

c.2007-4G>A

1 paper

NM_000535.7

p.T671A

c.2011A>G

18 papers

NM_000535.7

p.T671M

c.2012C>T

1 paper

NM_000535.7

p.K670insFs

c.2010dupA