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.S420P

c.1258T>C

Surrounding Variants

2 papers

NM_030955.4

p.R421C

c.1261C>T

2 papers

NM_030955.4

p.Q422R

c.1265A>G

1 paper

NM_030955.4

p.Y425C

c.1274A>G

1 paper

NM_030955.4

p.G404fs

c.1210_1211fs

1 paper

NM_030955.4

p.E438E

c.1314G>A

1 paper

NM_030955.4

p.Q401K

c.1201C>A

1 paper

NM_030955.4

p.T441I

c.1322C>T

1 paper

NM_030955.4

p.R442C

c.1324C>T

1 paper

NM_030955.4

p.R442H

c.1325G>A

1 paper

NM_030955.4

p.D445Splc

c.1334+1G>A

1 paper

NM_030955.4

p.D445Splc

c.1334+141G>A

1 paper

NM_030955.4

p.D445E

c.1335C>G