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

4 papers

NM_014694.4

p.R72Q

c.215G>A

Surrounding Variants

1 paper

NM_014694.4

p.R72W

c.214C>T

1 paper

NM_014694.4

p.Q77*

c.229C>T

1 paper

NM_014694.4

p.R78Splc

c.233+5G>C

3 papers

NM_014694.4

p.R61H

c.182G>A

1 paper

NM_014694.4

p.C59F

c.176G>T

1 paper

NM_014694.4

p.T57T

c.171G>A

1 paper

NM_014694.4

p.W53R

c.157T>A

1 paper

NM_014694.4

p.W53R

c.157T>C

2 papers

NM_014694.4

p.W50C

c.150G>C

2 papers

NM_014694.4

p.W50C

c.150G>T

1 paper

NM_014694.4

p.V20I

c.58G>A

1 paper

NM_014694.4

p.A11fs

c.31_32fs