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.P566P

c.1698T>A

Surrounding Variants

1 paper

NM_000535.7

p.P566delFs

c.1697delG

1 paper

NM_000535.7

p.P566delFs

c.1696_1697delGG

1 paper

NM_000535.7

p.Q567*

c.1699C>T

1 paper

NM_000535.7

p.P566L

c.1697C>T

1 paper

NM_000535.7

p.P566R

c.1697C>G

1 paper

NM_000535.7

p.P566delFs

c.1698delA

1 paper

NM_000535.7

p.L565_P566delFs

c.1695_1698del4

1 paper

NM_000535.7

p.P566S

c.1696C>T

1 paper

NM_000535.7

p.Q567insFs

c.1700dupA

1 paper

NM_000535.7

p.Q567H

c.1701G>C

1 paper

NM_000535.7

p.V564_L565delFs

c.1692_1693delAA

1 paper

NM_000535.7

p.V564_L565delFs

c.1690_1693del4