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

5 papers

NM_000535.7

p.Q536*

c.1606C>T

Surrounding Variants

1 paper

NM_000535.7

p.D534delFs

c.1602delG

1 paper

NM_000535.7

p.G525_D534del10

c.1573_1601del30

6 papers

NM_000535.7

p.E537K

c.1609G>A

1 paper

NM_000535.7

p.S535_Q536del2

c.1603_1607del6

1 paper

NM_000535.7

p.D534E

c.1602C>G

1 paper

NM_000535.7

p.D534E

c.1602C>A

1 paper

NM_000535.7

p.D534delFs

c.1601delT

1 paper

NM_000535.7

p.Q536insFs

c.1608dupG

1 paper

NM_000535.7

p.E531_E537ins2

c.1593_1610dup18

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.K538T

c.1613A>C