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

40 papers

NM_000535.7

p.R802*

c.2404C>T

Surrounding Variants

1 paper

NM_000535.7

p.R802_V803insT

c.2404_2408ins3

1 paper

NM_000535.7

p.R802Q

c.2405G>A

1 paper

NM_000535.7

p.S801A

c.2401T>G

2 papers

NM_000535.7

p.R799_P800delFs

c.2397_2400del4

1 paper

NM_000535.7

p.P794_P800del7

c.2380_2399del21

1 paper

NM_000535.7

p.V803F

c.2407G>T

1 paper

NM_000535.7

p.S801fs

c.2401_2402fs

1 paper

NM_000535.7

p.R802delFs

c.2405_2406delTC

1 paper

NM_000535.7

p.P800delFs

c.2398delG

1 paper

NM_000535.7

p.R799_P800delFs

c.2395_2398del4

1 paper

NM_000535.7

p.M797_P800Fs

c.2391_2398delinsGFs

1 paper

NM_000535.7

p.K804fs

c.2410_2411fs