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.F272S

c.815T>C

Surrounding Variants

1 paper

NM_000535.7

p.F272C

c.815T>G

1 paper

NM_000535.7

p.F272Y

c.815T>A

1 paper

NM_000535.7

p.G271_F272delFs

c.811_814del4

2 papers

NM_000535.7

p.G271delFs

c.812_813delAC

1 paper

NM_000535.7

p.G271_F272delFs

c.811_815del5

2 papers

NM_000535.7

p.I273V

c.817A>G

1 paper

NM_000535.7

p.I273delFs

c.817delT

4 papers

NM_000535.7

p.G271V

c.812G>T

3 papers

NM_000535.7

p.G271D

c.812G>A

1 paper

NM_000535.7

p.S270_G271delFs

c.810_811delCT

1 paper

NM_000535.7

p.S270_G271delFs

c.808_811del4

1 paper

NM_000535.7

p.G271fs

c.811_812fs