Varaico: Literature-Extracted Genetic Variants

ADAMTS12

163 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 53–146UCSCReprolysin family propeptide

Reprolysinaa 246–456UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 468–532UCSCADAMTS cysteine-rich domain 2

TSP_1aa 546–596UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 602–701UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 703–813UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 12

HGNC Previous Name

a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_030955.4

p.G763R

c.2287G>C

Surrounding Variants

2 papers

NM_030955.4

p.G763R

c.2287G>A

1 paper

NM_030955.4

p.G755*

c.2263G>T

1 paper

NM_030955.4

p.P748L

c.2243C>T

1 paper

NM_030955.4

p.D747V

c.2240A>T

1 paper

NM_030955.4

p.D747Y

c.2239G>T

1 paper

NM_030955.4

p.L741L

c.2221C>T

1 paper

NM_030955.4

p.N739S

c.2216A>G

1 paper

NM_030955.4

p.G736R

c.2206G>C

1 paper

NM_030955.4

p.G736R

c.2206G>A

1 paper

NM_030955.4

p.W794C

c.2382G>T

1 paper

NM_030955.4

p.W794C

c.2382G>C

1 paper

NM_030955.4

p.R730I

c.2189G>T