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.E531K

c.1591G>A

Surrounding Variants

4 papers

NM_000535.7

p.E531*

c.1591G>T

1 paper

NM_000535.7

p.Q530del1

c.1588_1590delCTG

1 paper

NM_000535.7

p.Q530delFs

c.1590delC

2 papers

NM_000535.7

p.Q530*

c.1588C>T

1 paper

NM_000535.7

p.S529delFs

c.1587delC

2 papers

NM_000535.7

p.G528_S529del2

c.1582_1586del6

1 paper

NM_000535.7

p.A520_S529del10

c.1558_1586del30

1 paper

NM_000535.7

p.E531delFs

c.1593delT

1 paper

NM_000535.7

p.E531delFs

c.1592_1593delTT

1 paper

NM_000535.7

p.S529S

c.1587G>T

1 paper

NM_000535.7

p.H532R

c.1595A>G

1 paper

NM_000535.7

p.H532insFs

c.1594dupC