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.M1L

c.1A>T

Surrounding Variants

1 paper

NM_197941.4

p.M1L

c.1A>C

1 paper

NM_197941.4

p.M1I

c.3G>T

1 paper

NM_197941.4

p.M1I

c.3G>C

1 paper

NM_197941.4

p.M1I

c.3G>A

1 paper

NM_197941.4

p.T7M

c.20C>T

1 paper

NM_197941.4

p.W10*

c.29G>A

1 paper

NM_197941.4

p.W10*

c.30G>A

1 paper

NM_197941.4

p.S19L

c.56C>T

1 paper

NM_197941.4

p.Q32H

c.96A>T

1 paper

NM_197941.4

p.Q32H

c.96A>C

1 paper

NM_197941.4

p.R70R

c.208A>C

3 papers

NM_197941.4

p.S90L

c.269C>T