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.E785delFs

c.2353delC

Surrounding Variants

2 papers

NM_000535.7

p.E785*

c.2353G>T

1 paper

NM_000535.7

p.D784insFs

c.2352dupT

1 paper

NM_000535.7

p.D784delFs

c.2352delA

1 paper

NM_000535.7

p.D784delFs

c.2351_2352delAT

1 paper

NM_000535.7

p.E785insFs

c.2354_2355ins31

1 paper

NM_000535.7

p.D784fs

c.2350_2351fs

1 paper

NM_000535.7

p.L786L

c.2356C>T

9 papers

NM_000535.7

p.L786M

c.2356C>A

1 paper

NM_000535.7

p.D784delFs

c.2350delC

1 paper

NM_000535.7

p.L786L

c.2358G>C

9 papers

NM_000535.7

p.D784N

c.2350G>A

1 paper

NM_000535.7

p.V783delFs

c.2348_2349delGA