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.P632T

c.1894C>A

Surrounding Variants

1 paper

NM_030955.4

p.P632L

c.1895C>T

1 paper

NM_030955.4

p.C633F

c.1898G>T

1 paper

NM_030955.4

p.L635L

c.1905C>G

1 paper

NM_030955.4

p.C637Y

c.1910G>A

1 paper

NM_030955.4

p.R638*

c.1912C>T

1 paper

NM_030955.4

p.A651V

c.1952C>T

1 paper

NM_030955.4

p.P657T

c.1969C>A

1 paper

NM_030955.4

p.C668S

c.2002T>A

1 paper

NM_030955.4

p.C668S

c.2003G>C

1 paper

NM_030955.4

p.C673C

c.2019T>C

1 paper

NM_030955.4

p.K674_M675Splc

c.2022+8G>A

1 paper

NM_030955.4

p.E681D

c.2043G>T