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

3 papers

NM_014694.4

p.G354fs

c.1060_1061fs

Surrounding Variants

2 papers

NM_014694.4

p.G354delFs

c.1061delG

1 paper

NM_014694.4

p.Q353E

c.1057C>G

12 papers

NM_014694.4

p.V364I

c.1090G>A

2 papers

NM_014694.4

p.E336K

c.1006G>A

1 paper

NM_014694.4

p.G372R

c.1114G>C

1 paper

NM_014694.4

p.N383_M393del0

c.1148_1177del30

1 paper

NM_014694.4

p.T325delFs

c.974delC

1 paper

NM_014694.4

p.E408K

c.1222G>A

1 paper

NM_014694.4

p.G412S

c.1234G>A

1 paper

NM_014694.4

p.G413R

c.1237G>A

1 paper

NM_014694.4

p.G413R

c.1237G>C

9 papers

NM_014694.4

p.G421S

c.1261G>A