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.K207*

c.619A>T

Surrounding Variants

1 paper

NM_000534.5

p.D205A

c.614A>C

1 paper

NM_000534.5

p.L210V

c.628C>G

1 paper

NM_000534.5

p.V203A

c.608T>C

1 paper

NM_000534.5

p.V203_S204del1

c.609_611delATC

1 paper

NM_000534.5

p.M211L

c.631A>T

1 paper

NM_000534.5

p.V203I

c.607G>A

10 papers

NM_000534.5

p.R202K

c.605G>A

1 paper

NM_000534.5

p.V213L

c.637G>C

1 paper

NM_000534.5

p.K200I

c.599A>T

1 paper

NM_000534.5

p.K200Q

c.598A>C

1 paper

NM_000534.5

p.W198*

c.594G>A

1 paper

NM_000534.5

p.W198C

c.594G>C