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.V549delFs

c.1645delC

Surrounding Variants

2 papers

NM_000535.7

p.S547_D548insFs

c.1639_1643dup5

2 papers

NM_000535.7

p.V549M

c.1645G>A

1 paper

NM_000535.7

p.D548D

c.1644T>C

1 paper

NM_000535.7

p.D548delFs

c.1643delT

1 paper

NM_000535.7

p.D550H

c.1648G>C

2 papers

NM_000535.7

p.D550G

c.1649A>G

1 paper

NM_000535.7

p.D550delFs

c.1648delC

1 paper

NM_000535.7

p.F546_S547insFs

c.1637_1641dup5

1 paper

NM_000535.7

p.D548N

c.1642G>A

2 papers

NM_000535.7

p.D550delFs

c.1650delG

1 paper

NM_000535.7

p.D550delFs

c.1649_1650delGT

1 paper

NM_000535.7

p.C551fs

c.1651_1652fs