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

2 papers

NM_000535.7

p.S284S

c.852A>G

Surrounding Variants

1 paper

NM_000535.7

p.S284delFs

c.851delG

2 papers

NM_000535.7

p.S284*

c.851C>G

1 paper

NM_000535.7

p.S284insFs

c.850dupT

1 paper

NM_000535.7

p.R282_S284insFs

c.844_850dup7

2 papers

NM_000535.7

p.S284*

c.851C>A

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

1 paper

NM_000535.7

p.T285insFs

c.853dupA

1 paper

NM_000535.7

p.S284fs

c.850_851fs

1 paper

NM_000535.7

p.S283R

c.849T>G

2 papers

NM_000535.7

p.S283R

c.849T>A