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.L712_Q713insFs

c.2136_2137insG

Surrounding Variants

2 papers

NM_000535.7

p.Q713*

c.2137C>T

1 paper

NM_000535.7

p.L712delFs

c.2136delC

1 paper

NM_000535.7

p.L712insFs

c.2135dupT

1 paper

NM_000535.7

p.L712L

c.2136G>A

1 paper

NM_000535.7

p.Q713delFs

c.2137delG

1 paper

NM_000535.7

p.Q713H

c.2139G>T

1 paper

NM_000535.7

p.Q713H

c.2139G>C

2 papers

NM_000535.7

p.Q714*

c.2140C>T

1 paper

NM_000535.7

p.V698_Q713del16

c.2092_2138del48

1 paper

NM_000535.7

p.M711insFs

c.2132dupT

1 paper

NM_000535.7

p.M711insFs

c.2131dupA

1 paper

NM_000535.7

p.Q714insFs

c.2141dupA