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.G271R

c.811G>C

Surrounding Variants

1 paper

NM_000535.7

p.G271fs

c.811_812fs

2 papers

NM_000535.7

p.G271S

c.811G>A

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.S270delFs

c.809delG

9 papers

NM_000535.7

p.S270*

c.809C>G

9 papers

NM_000535.7

p.S270*

c.809C>A

1 paper

NM_000535.7

p.S270A

c.808T>G

2 papers

NM_000535.7

p.G271delFs

c.812_813delAC

1 paper

NM_000535.7

p.F272C

c.815T>G