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.M1555T

c.4664T>C

Surrounding Variants

1 paper

NM_030955.4

p.R1564fs

c.4690_4691fs

2 papers

NM_030955.4

p.C1568*

c.4704C>A

1 paper

NM_030955.4

p.C1539Y

c.4616G>A

1 paper

NM_030955.4

p.H1575Q

c.4725C>G

1 paper

NM_030955.4

p.H1575Q

c.4725C>A

2 papers

NM_030955.4

p.I1576T

c.4727T>C

1 paper

NM_030955.4

p.R1586L

c.4757G>T

1 paper

NM_030955.4

p.S1591P

c.4771T>C

1 paper

NM_030955.4

p.A1535G

c.4604C>G

1 paper

NM_030955.4

p.K1525R

c.4574A>G

1 paper

NM_030955.4

p.P1521S

c.4561C>T

1 paper

NM_030955.4

p.K1505E

c.4513A>G