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

Selected Variant

15 papers

NM_014694.4

p.R221C

c.661C>T

Surrounding Variants

1 paper

NM_014694.4

p.T214P

c.640A>C

1 paper

NM_014694.4

p.C206F

c.617G>T

1 paper

NM_014694.4

p.V181A

c.542T>C

1 paper

NM_014694.4

p.R177*

c.529C>T

2 papers

NM_014694.4

p.C171R

c.511T>C

3 papers

NM_014694.4

p.G168S

c.502G>A

3 papers

NM_014694.4

p.D167N

c.499G>A

1 paper

NM_014694.4

p.R166C

c.496C>T

8 papers

NM_014694.4

p.A165T

c.493G>A

3 papers

NM_014694.4

p.R159W

c.475C>T

1 paper

NM_014694.4

p.V155M

c.463G>A

2 papers

NM_014694.4

p.T153S

c.457A>T