Varaico: Literature-Extracted Genetic Variants

ADAMTSL2

141 papers

RefSeq Summary

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

Pfam Domains

TSP_1aa 51–105UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 151–213UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 215–331UCSCADAM-TS Spacer 1

TSP1_ADAMTSaa 626–685UCSCThrombospondin type 1 domain

TSP1_ADAMTSaa 741–794UCSCThrombospondin type 1 domain

TSP1_ADAMTSaa 798–854UCSCThrombospondin type 1 domain

Gene Aliases

HGNC Name

ADAMTS like 2

HGNC Alias Symbol

KIAA0605

Papers

RefSeq ID

Protein change

DNA change

1–12 of 161 variants

15 papers

NM_014694.4

p.R221C

c.661C>T

12 papers

NM_014694.4

p.V364I

c.1090G>A

9 papers

NM_014694.4

p.G421S

c.1261G>A

8 papers

NM_014694.4

p.A165T

c.493G>A

7 papers

NM_014694.4

p.R113H

c.338G>A

7 papers

NM_014694.4

p.E114K

c.340G>A

5 papers

NM_014694.4

p.S635L

c.1904C>T

5 papers

NM_014694.4

p.G811R

c.2431G>A

5 papers

NM_014694.4

p.G811R

c.2431G>C

5 papers

NM_014694.4

p.W862*

c.2585G>A

5 papers

NM_014694.4

p.W862*

c.2586G>A

4 papers

NM_014694.4

p.R72Q

c.215G>A