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.S669N

c.2006G>A

Surrounding Variants

2 papers

NM_000535.7

p.S669I

c.2006G>T

2 papers

NM_000535.7

p.S669delFs

c.2005delT

1 paper

NM_000535.7

p.S669Splc

c.2006+1G>T

1 paper

NM_000535.7

p.S669Splc

c.2006+1G>C

2 papers

NM_000535.7

p.S669Splc

c.2006+1G>A

2 papers

NM_000535.7

p.I668_S669delFs

c.2002_2006del5

6 papers

NM_000535.7

p.S669fs

c.2005_2006fs

1 paper

NM_000535.7

p.S669Splc

c.2006+2T>G

2 papers

NM_000535.7

p.S669Splc

c.2006+2T>C

1 paper

NM_000535.7

p.I668Fs

c.2004delinsCAFs

1 paper

NM_000535.7

p.I668delFs

c.2003delA

1 paper

NM_000535.7

p.I668T

c.2003T>C