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.V796delFs

c.2388delG

Surrounding Variants

3 papers

NM_000535.7

p.M797R

c.2390T>G

1 paper

NM_000535.7

p.V796V

c.2388C>T

1 paper

NM_000535.7

p.G795insFs

c.2384dupG

1 paper

NM_000535.7

p.M797delFs

c.2389_2390delAT

1 paper

NM_000535.7

p.C798R

c.2392T>C

2 papers

NM_000535.7

p.V796F

c.2386G>T

1 paper

NM_000535.7

p.P794_G795insFs

c.2381_2385dup5

2 papers

NM_000535.7

p.V796I

c.2386G>A

1 paper

NM_000535.7

p.V796fs

c.2386_2387fs

1 paper

NM_000535.7

p.G795G

c.2385G>T

1 paper

NM_000535.7

p.C798insFs

c.2393_2394insT

1 paper

NM_000535.7

p.P794_G795insFs

c.2381_2384dup4