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.V157delFs

c.471delG

Surrounding Variants

2 papers

NM_000535.7

p.S158C

c.472A>T

2 papers

NM_000535.7

p.S158N

c.473G>A

1 paper

NM_000535.7

p.V157V

c.471C>G

1 paper

NM_000535.7

p.V157insFs

c.469_470dupGT

2 papers

NM_000535.7

p.V157V

c.471C>A

1 paper

NM_000535.7

p.V157insFs

c.469dupG

3 papers

NM_000535.7

p.V157A

c.470T>C

1 paper

NM_000535.7

p.V157D

c.470T>A

1 paper

NM_000535.7

p.T156_V157delFs

c.468_469delCT

1 paper

NM_000535.7

p.S158S

c.474C>T

1 paper

NM_000535.7

p.S158delFs

c.473delC

1 paper

NM_000535.7

p.T156_V157delFs

c.468_471del4