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.K790E

c.2368A>G

Surrounding Variants

1 paper

NM_197941.4

p.V782I

c.2344G>A

2 papers

NM_197941.4

p.S798F

c.2393C>T

1 paper

NM_197941.4

p.S798C

c.2393C>G

1 paper

NM_197941.4

p.W772*

c.2316G>A

1 paper

NM_197941.4

p.W772*

c.2315G>A

1 paper

NM_197941.4

p.I810L

c.2428A>C

1 paper

NM_197941.4

p.V811I

c.2431G>A

1 paper

NM_197941.4

p.V813G

c.2438T>G

1 paper

NM_197941.4

p.L814R

c.2441T>G

1 paper

NM_197941.4

p.Y824F

c.2471A>T

1 paper

NM_197941.4

p.V828_P829insA

c.2482_2486ins3

1 paper

NM_197941.4

p.M752V

c.2254A>G