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.R469delFs

c.1405_1406delCT

Surrounding Variants

2 papers

NM_000535.7

p.P470fs

c.1408_1409fs

78 papers

NM_000535.7

p.P470S

c.1408C>T

1 paper

NM_000535.7

p.P470Fs

c.1408delinsGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGATFs

1 paper

NM_000535.7

p.R469insFs

c.1407dupA

2 papers

NM_000535.7

p.P470L

c.1409C>T

1 paper

NM_000535.7

p.P470R

c.1409C>G

1 paper

NM_000535.7

p.L468_R469del2

c.1402_1406del6

1 paper

NM_000535.7

p.P470delFs

c.1408delG

1 paper

NM_000535.7

p.R469delFs

c.1405delT

1 paper

NM_000535.7

p.S459_R469del0

c.1376_1405del30

2 papers

NM_000535.7

p.Q471*

c.1411C>T

1 paper

NM_000535.7

p.L468_P470delFs

c.1404_1410del7