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.S639_E640delFs

c.1916_1919del4

Surrounding Variants

1 paper

NM_000535.7

p.E640E

c.1920A>G

1 paper

NM_000535.7

p.E640_G641insFs

c.1920_1921insT

1 paper

NM_000535.7

p.G641W

c.1921G>T

1 paper

NM_000535.7

p.A636_E640delFs

c.1907_1920del14

1 paper

NM_000535.7

p.E640*

c.1918G>T

4 papers

NM_000535.7

p.E640K

c.1918G>A

1 paper

NM_000535.7

p.Q638_S639del2

c.1912_1916del6

1 paper

NM_000535.7

p.S639insFs

c.1916dupG

2 papers

NM_000535.7

p.S639R

c.1917T>G

2 papers

NM_000535.7

p.E642*

c.1924G>T

1 paper

NM_000535.7

p.E642Q

c.1924G>C

1 paper

NM_000535.7

p.G641insFs

c.1921dupG