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

1–12 of 643 variants

16 papers

NM_000534.5

p.T75I

c.224C>T

10 papers

NM_000534.5

p.R202K

c.605G>A

10 papers

NM_000534.5

p.E537K

c.1609G>A

8 papers

NM_000534.5

p.E59K

c.175G>A

8 papers

NM_000534.5

p.R919C

c.2755C>T

7 papers

NM_000534.5

p.K163insFs

c.488_489insA

6 papers

NM_000534.5

p.T806S

c.2416A>T

6 papers

NM_000534.5

p.T806S

c.2417C>G

5 papers

NM_000534.5

p.E27Q

c.79G>C

5 papers

NM_000534.5

p.R277*

c.829C>T

5 papers

NM_000534.5

p.S288C

c.863C>G

5 papers

NM_000534.5

p.G501R

c.1501G>C