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.K580R

c.1739A>G

Surrounding Variants

29 papers

NM_000535.7

p.K580*

c.1738A>T

1 paper

NM_000535.7

p.F579delFs

c.1737delA

1 paper

NM_000535.7

p.F579_K580insFs

c.1737_1738insA

3 papers

NM_000535.7

p.K581E

c.1741A>G

1 paper

NM_000535.7

p.F579insFs

c.1736_1737insGT

1 paper

NM_000535.7

p.F579C

c.1736T>G

1 paper

NM_000535.7

p.F579fs

c.1735_1736fs

2 papers

NM_000535.7

p.R578fs

c.1732_1733fs

1 paper

NM_000535.7

p.R578R

c.1734T>C

1 paper

NM_000535.7

p.K581insFs

c.1741dupA

1 paper

NM_000535.7

p.E582Q

c.1744G>C

3 papers

NM_000535.7

p.K581delFs

c.1743delT