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.S80R

c.238A>C

Surrounding Variants

1 paper

NM_000534.5

p.S80R

c.240T>A

1 paper

NM_000534.5

p.S80R

c.240T>G

1 paper

NM_000534.5

p.N79D

c.235A>G

1 paper

NM_000534.5

p.I78V

c.232A>G

1 paper

NM_000534.5

p.K77N

c.231A>T

1 paper

NM_000534.5

p.L84F

c.250C>T

16 papers

NM_000534.5

p.T75I

c.224C>T

1 paper

NM_000534.5

p.Y73N

c.217T>A

1 paper

NM_000534.5

p.K72R

c.215A>G

1 paper

NM_000534.5

p.M71I

c.213G>A

1 paper

NM_000534.5

p.M71I

c.213G>C

1 paper

NM_000534.5

p.M71I

c.213G>T