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

5 papers

NM_000534.5

p.Y793H

c.2377T>C

Surrounding Variants

1 paper

NM_000534.5

p.K794*

c.2380A>T

1 paper

NM_000534.5

p.K794R

c.2381A>G

1 paper

NM_000534.5

p.D790V

c.2369A>T

1 paper

NM_000534.5

p.M795I

c.2385G>A

1 paper

NM_000534.5

p.M795I

c.2385G>C

1 paper

NM_000534.5

p.M795I

c.2385G>T

1 paper

NM_000534.5

p.D790Y

c.2368G>T

1 paper

NM_000534.5

p.A797T

c.2389G>A

1 paper

NM_000534.5

p.A797S

c.2389G>T

1 paper

NM_000534.5

p.D798insFs

c.2393_2394insT

1 paper

NM_000534.5

p.S786S

c.2358T>C

1 paper

NM_000534.5

p.N784S

c.2351A>G