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.G281_S283insFs

c.843_847dup5

Surrounding Variants

1 paper

NM_000535.7

p.S283N

c.848G>A

1 paper

NM_000535.7

p.S283R

c.849T>G

2 papers

NM_000535.7

p.S283R

c.849T>A

1 paper

NM_000535.7

p.S283fs

c.847_848fs

2 papers

NM_000535.7

p.R282_S283del1

c.846_848delCTC

1 paper

NM_000535.7

p.R282_S283delFs

c.845_848del4

1 paper

NM_000535.7

p.S283R

c.847A>C

1 paper

NM_000535.7

p.R282insFs

c.845dupG

1 paper

NM_000535.7

p.R282delFs

c.846delC

1 paper

NM_000535.7

p.S284insFs

c.850_851insC

1 paper

NM_000535.7

p.S284_T285insG

c.850_854ins3

1 paper

NM_000535.7

p.R282_S283del2

c.844_848del6