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

2 papers

NM_000535.7

p.K774E

c.2320A>G

Surrounding Variants

1 paper

NM_000535.7

p.K774*

c.2320A>T

1 paper

NM_000535.7

p.S773insFs

c.2319dupT

2 papers

NM_000535.7

p.K774I

c.2321A>T

1 paper

NM_000535.7

p.T772_S773insFs

c.2316_2317dupTA

1 paper

NM_000535.7

p.S773T

c.2318G>C

1 paper

NM_000535.7

p.S773N

c.2318G>A

1 paper

NM_000535.7

p.K774K

c.2322A>G

1 paper

NM_000535.7

p.P771_T772del2

c.2311_2315del6

33 papers

NM_000535.7

p.N775S

c.2324A>G

1 paper

NM_000535.7

p.N775insFs

c.2324_2325ins8

1 paper

NM_000535.7

p.T772delFs

c.2314delT

1 paper

NM_000535.7

p.T772fs

c.2314_2315fs