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.P442S

c.1324C>T

Surrounding Variants

1 paper

NM_000535.7

p.E441delFs

c.1322delT

1 paper

NM_000535.7

p.P442fs

c.1324_1325fs

1 paper

NM_000535.7

p.P442L

c.1325C>T

1 paper

NM_000535.7

p.E441_P442insFs

c.1323_1324ins4

1 paper

NM_000535.7

p.P440_E441delFs

c.1320_1321delCT

2 papers

NM_000535.7

p.P442P

c.1326A>T

1 paper

NM_000535.7

p.E441insFs

c.1321dupG

1 paper

NM_000535.7

p.E441delFs

c.1321delC

1 paper

NM_000535.7

p.E441K

c.1321G>A

1 paper

NM_000535.7

p.R443R

c.1327A>C

1 paper

NM_000535.7

p.P442insFs

c.1326dupA

1 paper

NM_000535.7

p.R443T

c.1328G>C