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.N379S

c.1136A>G

Surrounding Variants

1 paper

NM_030955.4

p.D381N

c.1141G>A

1 paper

NM_030955.4

p.N377S

c.1130A>G

1 paper

NM_030955.4

p.S382S

c.1146G>T

1 paper

NM_030955.4

p.G383*

c.1147G>T

1 paper

NM_030955.4

p.R374C

c.1120C>T

2 papers

NM_030955.4

p.P385S

c.1153C>T

1 paper

NM_030955.4

p.G368*

c.1102G>T

1 paper

NM_030955.4

p.G368R

c.1102G>C

1 paper

NM_030955.4

p.G368R

c.1102G>A

1 paper

NM_030955.4

p.L366P

c.1097T>C

1 paper

NM_030955.4

p.H392Q

c.1176T>G

1 paper

NM_030955.4

p.H392Q

c.1176T>A