Varaico: Literature-Extracted Genetic Variants

ADAMTS6

103 papers

RefSeq Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a prop...

Pfam Domains

Pep_M12B_propepaa 43–138UCSCReprolysin family propeptide

Reprolysinaa 250–468UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 480–548UCSCADAMTS cysteine-rich domain 2

TSP_1aa 562–612UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 616–716UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 718–829UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 6

HGNC Alias Symbol

ADAM-TS6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_197941.4

p.H403Q

c.1209T>G

Surrounding Variants

1 paper

NM_197941.4

p.H403Q

c.1209T>A

2 papers

NM_197941.4

p.E404A

c.1211A>C

1 paper

NM_197941.4

p.E382G

c.1145A>G

1 paper

NM_197941.4

p.D360E

c.1080T>A