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.E43delFs

c.128_129delCT

Surrounding Variants

1 paper

NM_030955.4

p.F45S

c.134T>C

1 paper

NM_030955.4

p.I46S

c.137T>G

1 paper

NM_030955.4

p.I46T

c.137T>C

1 paper

NM_030955.4

p.L49fs

c.145_146fs

1 paper

NM_030955.4

p.P50S

c.148C>T

1 paper

NM_030955.4

p.P50Q

c.149C>A

1 paper

NM_030955.4

p.R59*

c.175C>T

1 paper

NM_030955.4

p.E43Splc

c.128-50C>T

1 paper

NM_030955.4

p.D85H

c.253G>C

1 paper

NM_030955.4

p.S87*

c.260C>G

1 paper

NM_030955.4

p.S87*

c.260C>A

1 paper

NM_030955.4

p.Y92H

c.274T>C