Varaico: Literature-Extracted Genetic Variants

ADAMTS1

152 papers

RefSeq Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a prope...

Pfam Domains

Pep_M12B_propepaa 51–130UCSCReprolysin family propeptide

Reprolysinaa 258–467UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 478–546UCSCADAMTS cysteine-rich domain 2

TSP_1aa 563–613UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 619–724UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 726–843UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 1

HGNC Alias Symbols

C3-C5; METH1; KIAA1346

Papers

RefSeq ID

Protein change

DNA change

1–12 of 176 variants

6 papers

NM_006988.5

p.R703H

c.2108G>A

5 papers

NM_006988.5

p.A227P

c.679G>C

3 papers

NM_006988.5

p.P467A

c.1399C>G

2 papers

NM_006988.5

p.M1R

c.2T>G

2 papers

NM_006988.5

p.L44L

c.130C>T

2 papers

NM_006988.5

p.H79Q

c.237C>G

2 papers

NM_006988.5

p.E88K

c.262G>A

2 papers

NM_006988.5

p.L102F

c.304C>T

2 papers

NM_006988.5

p.A97_R107delFs

c.291_319del29

2 papers

NM_006988.5

p.G110_S111ins9

c.330_331ins27

2 papers

NM_006988.5

p.F124_Y125insFs

c.372_373insGT

2 papers

NM_006988.5

p.L161L

c.483G>A