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

5 papers

NM_014694.4

p.S635L

c.1904C>T

Surrounding Variants

1 paper

NM_014694.4

p.E640D

c.1920G>C

1 paper

NM_014694.4

p.E640D

c.1920G>T

4 papers

NM_014694.4

p.R645H

c.1934G>A

1 paper

NM_014694.4

p.R648C

c.1942C>T

2 papers

NM_014694.4

p.R648P

c.1943G>C

1 paper

NM_014694.4

p.C649Y

c.1946G>A

1 paper

NM_014694.4

p.W650C

c.1950G>T

3 papers

NM_014694.4

p.G656S

c.1966G>A

1 paper

NM_014694.4

p.C666W

c.1998C>G

1 paper

NM_014694.4

p.A671A

c.2013C>T

1 paper

NM_014694.4

p.T679S

c.2036C>G

1 paper

NM_014694.4

p.R681W

c.2041C>T