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.W132R

c.394T>C

Surrounding Variants

1 paper

NM_014694.4

p.W132R

c.394T>A

1 paper

NM_014694.4

p.W132L

c.395G>T

1 paper

NM_014694.4

p.R128Q

c.383G>A

1 paper

NM_014694.4

p.Y136D

c.406T>G

2 papers

NM_014694.4

p.P137L

c.410C>T

1 paper

NM_014694.4

p.D138E

c.414T>A

1 paper

NM_014694.4

p.D138E

c.414T>G

1 paper

NM_014694.4

p.V124M

c.370G>A

1 paper

NM_014694.4

p.S119S

c.357C>A

1 paper

NM_014694.4

p.Q116*

c.346C>T

7 papers

NM_014694.4

p.E114K

c.340G>A

7 papers

NM_014694.4

p.R113H

c.338G>A