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.T733M

c.2198C>T

Surrounding Variants

1 paper

NM_014694.4

p.G734D

c.2201G>A

1 paper

NM_014694.4

p.D745N

c.2233G>A

1 paper

NM_014694.4

p.S714S

c.2142G>A

1 paper

NM_014694.4

p.C713R

c.2137T>C

1 paper

NM_014694.4

p.G702A

c.2105G>C

1 paper

NM_014694.4

p.E696_C697Splc

c.2089-7G>A

2 papers

NM_014694.4

p.S695Y

c.2084C>A

1 paper

NM_014694.4

p.E690K

c.2068G>A

2 papers

NM_014694.4

p.R681Q

c.2042G>A

1 paper

NM_014694.4

p.R681W

c.2041C>T

1 paper

NM_014694.4

p.T679S

c.2036C>G

1 paper

NM_014694.4

p.A671A

c.2013C>T