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.H311_P319delFs

c.933_957del25

Surrounding Variants

1 paper

NM_000535.7

p.F320_V321insT

c.958_962ins3

1 paper

NM_000535.7

p.F320L

c.958T>C

1 paper

NM_000535.7

p.F320S

c.959T>C

1 paper

NM_000535.7

p.P319_F320Fs

c.957_959delinsTFs

1 paper

NM_000535.7

p.Y318_P319delFs

c.954_957del4

1 paper

NM_000535.7

p.M312_F320delFs

c.936_958del23

1 paper

NM_000535.7

p.P319P

c.957A>G

1 paper

NM_000535.7

p.P319insFs

c.956dupC

1 paper

NM_000535.7

p.F320L

c.960T>G

1 paper

NM_000535.7

p.F320L

c.960T>A

1 paper

NM_000535.7

p.P319_F320delFs

c.955_959del5

1 paper

NM_000535.7

p.P319L

c.956C>T