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.K821N

c.2463A>C

Surrounding Variants

1 paper

NM_000534.5

p.K821N

c.2463A>T

1 paper

NM_000534.5

p.K821E

c.2461A>G

1 paper

NM_000534.5

p.G825delFs

c.2473delG

1 paper

NM_000534.5

p.N816D

c.2446A>G

2 papers

NM_000534.5

p.A815V

c.2444C>T

1 paper

NM_000534.5

p.L813R

c.2438T>G

1 paper

NM_000534.5

p.R812H

c.2435G>A

1 paper

NM_000534.5

p.P811S

c.2431C>T

6 papers

NM_000534.5

p.T806S

c.2417C>G

6 papers

NM_000534.5

p.T806S

c.2416A>T

2 papers

NM_000534.5

p.S803G

c.2407A>G

1 paper

NM_000534.5

p.Y802_S803insT

c.2404_2408ins3