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.K16_I18delFs

c.47_53del7

Surrounding Variants

2 papers

NM_000535.7

p.I18fs

c.52_53fs

2 papers

NM_000535.7

p.I18I

c.54T>C

7 papers

NM_000535.7

p.I18T

c.53T>C

1 paper

NM_000535.7

p.I18delFs

c.52delT

1 paper

NM_000535.7

p.D19fs

c.55_56fs

1 paper

NM_000535.7

p.I18delFs

c.54delA

4 papers

NM_000535.7

p.I18fs

c.52_53fs

1 paper

NM_000535.7

p.I18F

c.52A>T

39 papers

NM_000535.7

p.I18V

c.52A>G

1 paper

NM_000535.7

p.D19ins1

c.56_57insGCC

1 paper

NM_000535.7

p.I18_D19insGCG

c.52_56ins9

1 paper

NM_000535.7

p.P17delFs

c.51delA