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.P152_R153delFs

c.456_459del4

Surrounding Variants

1 paper

NM_000535.7

p.G154_T155insG

c.460_464ins3

1 paper

NM_000535.7

p.G154R

c.460G>C

3 papers

NM_000535.7

p.G154R

c.460G>A

1 paper

NM_000535.7

p.R153delFs

c.459delT

1 paper

NM_000535.7

p.P150_R153del4

c.448_458del12

2 papers

NM_000535.7

p.G154E

c.461G>A

1 paper

NM_000535.7

p.R153delFs

c.457delT

1 paper

NM_000535.7

p.T155S

c.463A>T

2 papers

NM_000535.7

p.T155A

c.463A>G

1 paper

NM_000535.7

p.G154insFs

c.460dupG

3 papers

NM_000535.7

p.P152insFs

c.455dupC

1 paper

NM_000535.7

p.G154delFs

c.460delC