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.L318*

c.953T>A

Surrounding Variants

2 papers

NM_000534.5

p.Q316E

c.946C>G

1 paper

NM_000534.5

p.Q316*

c.946C>T

1 paper

NM_000534.5

p.K322E

c.964A>G

1 paper

NM_000534.5

p.K314N

c.942A>T

1 paper

NM_000534.5

p.D313N

c.937G>A

1 paper

NM_000534.5

p.P312L

c.935C>T

1 paper

NM_000534.5

p.V308I

c.922G>A

1 paper

NM_000534.5

p.D307N

c.919G>A

1 paper

NM_000534.5

p.D307H

c.919G>C

1 paper

NM_000534.5

p.A304delFs

c.911delC

1 paper

NM_000534.5

p.V301delFs

c.902delT

1 paper

NM_000534.5

p.D300delFs

c.900delT