Varaico: Literature-Extracted Genetic Variants

PMS1

554 papers

RefSeq Summary

This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a kno...

Pfam Domains

HATPase_caa 17–151UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

HATPase_c_3aa 18–137UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

DNA_mis_repairaa 210–337UCSCDNA mismatch repair protein, C-terminal domain

HMG_boxaa 571–638UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

PMS1 homolog 1, mismatch repair system component

HGNC Previous Symbol

PMSL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000534.5

p.Q157L

c.470A>T

Surrounding Variants

1 paper

NM_000534.5

p.F158V

c.472T>G

1 paper

NM_000534.5

p.K156R

c.467A>G

1 paper

NM_000534.5

p.K156M

c.467A>T

1 paper

NM_000534.5

p.F158L

c.474T>G

1 paper

NM_000534.5

p.Y159H

c.475T>C

1 paper

NM_000534.5

p.Y159Fs

c.477delinsTAFs

1 paper

NM_000534.5

p.V154V

c.462A>T

2 papers

NM_000534.5

p.S160L

c.479C>T

1 paper

NM_000534.5

p.T161P

c.481A>C

1 paper

NM_000534.5

p.P153P

c.459T>A

2 papers

NM_000534.5

p.A162fs

c.484_485fs

7 papers

NM_000534.5

p.K163insFs

c.488_489insA