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.S22P

c.64T>C

Surrounding Variants

1 paper

NM_000535.7

p.S22A

c.64T>G

1 paper

NM_000535.7

p.T9_K21del13

c.25_62del39

1 paper

NM_000535.7

p.K21K

c.63G>A

1 paper

NM_000535.7

p.K21delFs

c.61delT

3 papers

NM_000535.7

p.S22L

c.65C>T

5 papers

NM_000535.7

p.S22*

c.65C>G

5 papers

NM_000535.7

p.S22*

c.65C>A

1 paper

NM_000535.7

p.S22insFs

c.65dupC

1 paper

NM_000535.7

p.S22delFs

c.65delG

2 papers

NM_000535.7

p.V23F

c.67G>T

1 paper

NM_000535.7

p.V23L

c.67G>C

2 papers

NM_000535.7

p.V23I

c.67G>A