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.R240C

c.718C>T

Surrounding Variants

1 paper

NM_030955.4

p.R240P

c.719G>C

1 paper

NM_030955.4

p.S241F

c.722C>T

1 paper

NM_030955.4

p.S243I

c.728G>T

1 paper

NM_030955.4

p.R229S

c.687G>T

1 paper

NM_030955.4

p.R229S

c.687G>C

1 paper

NM_030955.4

p.L251M

c.751C>A

1 paper

NM_030955.4

p.D255H

c.763G>C

1 paper

NM_030955.4

p.T256S

c.766A>T

1 paper

NM_030955.4

p.T256P

c.766A>C

1 paper

NM_030955.4

p.E260K

c.778G>A

1 paper

NM_030955.4

p.E260G

c.779A>G

1 paper

NM_030955.4

p.H262R

c.785A>G