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

1 paper

NM_014694.4

p.I759F

c.2275A>T

Surrounding Variants

1 paper

NM_014694.4

p.H761P

c.2282A>C

1 paper

NM_014694.4

p.V762M

c.2284G>A

1 paper

NM_014694.4

p.S752I

c.2255G>T

1 paper

NM_014694.4

p.G769R

c.2305G>A

1 paper

NM_014694.4

p.G769R

c.2305G>C

3 papers

NM_014694.4

p.V771V

c.2313A>G

1 paper

NM_014694.4

p.R805Q

c.2414G>A

1 paper

NM_014694.4

p.D745N

c.2233G>A

1 paper

NM_014694.4

p.G734D

c.2201G>A

1 paper

NM_014694.4

p.T733M

c.2198C>T

1 paper

NM_014694.4

p.S714S

c.2142G>A

1 paper

NM_014694.4

p.C713R

c.2137T>C