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.D534E

c.1602C>A

Surrounding Variants

1 paper

NM_000535.7

p.D534E

c.1602C>G

1 paper

NM_000535.7

p.D534delFs

c.1601delT

1 paper

NM_000535.7

p.D534delFs

c.1602delG

1 paper

NM_000535.7

p.G525_D534del10

c.1573_1601del30

3 papers

NM_000535.7

p.D534N

c.1600G>A

1 paper

NM_000535.7

p.H532_V533delFs

c.1596_1597delCA

1 paper

NM_000535.7

p.V533delFs

c.1597delC

1 paper

NM_000535.7

p.G525_H532del8

c.1573_1595del24

5 papers

NM_000535.7

p.Q536*

c.1606C>T

1 paper

NM_000535.7

p.H532insFs

c.1596dupT

3 papers

NM_000535.7

p.V533M

c.1597G>A

1 paper

NM_000535.7

p.S529_V533Fs

c.1587_1597delinsTFs