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.S623delFs

c.1868delC

Surrounding Variants

1 paper

NM_000535.7

p.M622_S623insFs

c.1866_1869dup4

1 paper

NM_000535.7

p.S623I

c.1868G>T

1 paper

NM_000535.7

p.S623delFs

c.1867delT

3 papers

NM_000535.7

p.S624F

c.1871C>T

1 paper

NM_000535.7

p.K614_S624insFs

c.1840_1870dup31

2 papers

NM_000535.7

p.S624Y

c.1871C>A

1 paper

NM_000535.7

p.S623delFs

c.1869delA

2 papers

NM_000535.7

p.M622delFs

c.1866delC

1 paper

NM_000535.7

p.S624S

c.1872T>G

1 paper

NM_000535.7

p.S624S

c.1872T>C

1 paper

NM_000535.7

p.S624delFs

c.1871delG

43 papers

NM_000535.7

p.M622I

c.1866G>T