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.E287_S288delFs

c.861_864del4

Surrounding Variants

1 paper

NM_000534.5

p.S288delFs

c.862_863delTC

5 papers

NM_000534.5

p.S288C

c.863C>G

1 paper

NM_000534.5

p.K286delFs

c.856delA

1 paper

NM_000534.5

p.L282V

c.844C>G

1 paper

NM_000534.5

p.F295ins1

c.883_884insGTA

2 papers

NM_000534.5

p.H279R

c.836A>G

1 paper

NM_000534.5

p.H278P

c.833A>C

1 paper

NM_000534.5

p.L297V

c.889C>G

2 papers

NM_000534.5

p.R277Q

c.830G>A

1 paper

NM_000534.5

p.R277L

c.830G>T

5 papers

NM_000534.5

p.R277*

c.829C>T

1 paper

NM_000534.5

p.D300fs

c.898_899fs