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.A14D

c.41C>A

Surrounding Variants

1 paper

NM_000535.7

p.A14V

c.41C>T

2 papers

NM_000535.7

p.A14G

c.41C>G

1 paper

NM_000535.7

p.K13_A14insFs

c.39_40dupGG

1 paper

NM_000535.7

p.A14S

c.40G>T

1 paper

NM_000535.7

p.A14ins4

c.40_41ins12

1 paper

NM_000535.7

p.A14P

c.40G>C

2 papers

NM_000535.7

p.A14T

c.40G>A

1 paper

NM_000535.7

p.A14A

c.42C>T

1 paper

NM_000535.7

p.K13_A14ins1

c.39_40insGGC

1 paper

NM_000535.7

p.A14A

c.42C>A

1 paper

NM_000535.7

p.K13insFs

c.38dupA

1 paper

NM_000535.7

p.K13N

c.39G>C