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.S46C

c.136A>T

Surrounding Variants

1 paper

NM_000535.7

p.S46R

c.136A>C

171 papers

NM_000535.7

p.S46I

c.137G>T

22 papers

NM_000535.7

p.S46N

c.137G>A

1 paper

NM_000535.7

p.N45_S46delFs

c.135_136delTG

1 paper

NM_000535.7

p.N45K

c.135C>G

1 paper

NM_000535.7

p.E44insFs

c.131dupA

2 papers

NM_000535.7

p.E44delFs

c.132delT

1 paper

NM_000535.7

p.S46R

c.138T>G

2 papers

NM_000535.7

p.S46S

c.138T>C

1 paper

NM_000535.7

p.S46R

c.138T>A

2 papers

NM_000535.7

p.N45S

c.134A>G

5 papers

NM_000535.7

p.N45T

c.134A>C