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

1 paper

NM_030955.4

p.H140R

c.419A>G

Surrounding Variants

1 paper

NM_030955.4

p.L138fs

c.412_413fs

1 paper

NM_030955.4

p.G143D

c.428G>A

1 paper

NM_030955.4

p.M131I

c.393G>T

1 paper

NM_030955.4

p.M131I

c.393G>C

1 paper

NM_030955.4

p.M131I

c.393G>A

2 papers

NM_030955.4

p.T154M

c.461C>T

1 paper

NM_030955.4

p.A156V

c.467C>T

1 paper

NM_030955.4

p.I118F

c.352A>T

1 paper

NM_030955.4

p.Q110*

c.328C>T

1 paper

NM_030955.4

p.T107M

c.320C>T

1 paper

NM_030955.4

p.Y92H

c.274T>C

1 paper

NM_030955.4

p.S87*

c.260C>G