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.T569I

c.1706C>T

Surrounding Variants

1 paper

NM_000535.7

p.P568delFs

c.1704delT

1 paper

NM_000535.7

p.Q567_P568delFs

c.1700_1704del5

1 paper

NM_000535.7

p.T569insFs

c.1705_1706dupAC

1 paper

NM_000535.7

p.T569delFs

c.1705_1706delGT

2 papers

NM_000535.7

p.T569A

c.1705A>G

2 papers

NM_000535.7

p.T569insFs

c.1705_1706insT

1 paper

NM_000535.7

p.N570fs

c.1708_1709fs

3 papers

NM_000535.7

p.N570D

c.1708A>G

1 paper

NM_000535.7

p.P568insFs

c.1702dupC

1 paper

NM_000535.7

p.T569delFs

c.1707delA

1 paper

NM_000535.7

p.N570insFs

c.1709dupA

1 paper

NM_000535.7

p.N570delFs

c.1708delT