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.E663delFs

c.1988delT

Surrounding Variants

3 papers

NM_000535.7

p.E663D

c.1989A>T

3 papers

NM_000535.7

p.E663D

c.1989A>C

3 papers

NM_000535.7

p.E663G

c.1988A>G

1 paper

NM_000535.7

p.L664L

c.1992A>G

4 papers

NM_000535.7

p.E663A

c.1988A>C

1 paper

NM_000535.7

p.D662_E663delFs

c.1986_1987delCA

3 papers

NM_000535.7

p.E663*

c.1987G>T

1 paper

NM_000535.7

p.D662delFs

c.1986delA

2 papers

NM_000535.7

p.R665G

c.1993A>G

1 paper

NM_000535.7

p.L664delFs

c.1991_1992delTA

1 paper

NM_000535.7

p.E663fs

c.1987_1988fs

1 paper

NM_000535.7

p.D662insFs

c.1985dupA