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.E44*

c.130G>T

Surrounding Variants

1 paper

NM_000535.7

p.V43insFs

c.129dupA

4 papers

NM_000535.7

p.E44Q

c.130G>C

1 paper

NM_000535.7

p.E44K

c.130G>A

1 paper

NM_000535.7

p.V43delFs

c.129delT

1 paper

NM_000535.7

p.E44fs

c.130_131fs

1 paper

NM_000535.7

p.E44V

c.131A>T

2 papers

NM_000535.7

p.E44G

c.131A>G

1 paper

NM_000535.7

p.L42_V43insFs

c.124_127dup4

1 paper

NM_000535.7

p.E44delins

c.130_131delinsCT

3 papers

NM_000535.7

p.V43del1

c.127_128delTAC

1 paper

NM_000535.7

p.V43G

c.128T>G

1 paper

NM_000535.7

p.E44fs

c.130_131fs