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.D286fs

c.856_857fs

Surrounding Variants

2 papers

NM_000535.7

p.D286delFs

c.856_857delTC

2 papers

NM_000535.7

p.R287*

c.859A>T

13 papers

NM_000535.7

p.D286G

c.857A>G

1 paper

NM_000535.7

p.R287G

c.859A>G

3 papers

NM_000535.7

p.D286delFs

c.856delC

15 papers

NM_000535.7

p.R287fs

c.859_860fs

1 paper

NM_000535.7

p.D286delFs

c.858delG

1 paper

NM_000535.7

p.R282_D286delFs

c.845_858del14

1 paper

NM_000535.7

p.D286Y

c.856G>T

1 paper

NM_000535.7

p.D286insFs

c.856_857insT

2 papers

NM_000535.7

p.R287insFs

c.859dupA

1 paper

NM_000535.7

p.T285insFs

c.855dupA