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.I298K

c.893T>A

Surrounding Variants

1 paper

NM_197941.4

p.I298M

c.894A>G

1 paper

NM_197941.4

p.E307G

c.920A>G

1 paper

NM_197941.4

p.Q309H

c.927G>T

1 paper

NM_197941.4

p.Q309H

c.927G>C

1 paper

NM_197941.4

p.P310S

c.928C>T

1 paper

NM_197941.4

p.P310A

c.928C>G

1 paper

NM_197941.4

p.S277fs

c.829_830fs

1 paper

NM_197941.4

p.E313V

c.938A>T

1 paper

NM_197941.4

p.H316H

c.948C>T

1 paper

NM_197941.4

p.D319N

c.955G>A

1 paper

NM_197941.4

p.D270N

c.808G>A

1 paper

NM_197941.4

p.S321F

c.962C>T