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.H633H

c.1899T>C

Surrounding Variants

1 paper

NM_000535.7

p.H633delFs

c.1898delT

1 paper

NM_000535.7

p.Q631_L632del2

c.1891_1895del6

1 paper

NM_000535.7

p.H633R

c.1898A>G

1 paper

NM_000535.7

p.H633insFs

c.1897dupC

1 paper

NM_000535.7

p.H633delFs

c.1897delG

1 paper

NM_000535.7

p.H633fs

c.1897_1898fs

1 paper

NM_000535.7

p.H633_H634delFs

c.1899_1900delGA

1 paper

NM_000535.7

p.H634insFs

c.1901dupA

1 paper

NM_000535.7

p.H634delFs

c.1900_1901delTG

2 papers

NM_000535.7

p.Q631_H634Fs

c.1892_1902delinsTAAAFs

2 papers

NM_000535.7

p.E635*

c.1903G>T

1 paper

NM_000535.7

p.H634delFs

c.1902delA