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.V475_S476delFs

c.1425_1428del4

Surrounding Variants

1 paper

NM_000535.7

p.K472_S476delFs

c.1415_1427del13

3 papers

NM_000535.7

p.S477Y

c.1430C>A

1 paper

NM_000535.7

p.S476fs

c.1426_1427fs

1 paper

NM_000535.7

p.S477insFs

c.1430dupC

1 paper

NM_000535.7

p.V475delFs

c.1425delC

1 paper

NM_000535.7

p.S477delFs

c.1430delG

1 paper

NM_000535.7

p.V475insFs

c.1424dupT

1 paper

NM_000535.7

p.S478T

c.1433G>C

2 papers

NM_000535.7

p.S478N

c.1433G>A

1 paper

NM_000535.7

p.S478fs

c.1432_1433fs

1 paper

NM_000535.7

p.V475E

c.1424T>A

1 paper

NM_000535.7

p.V475delFs

c.1423delC