Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL3

ADAMTSL3

178 papers

Pfam Domains

TSP_1aa 79–123UCSCThrombospondin type 1 domain
ADAMTS_CR_3aa 128–227UCSCADAMTS cysteine-rich domain
TSP1_ADAMTSaa 343–401UCSCThrombospondin type 1 domain
TSP1_ADAMTSaa 422–479UCSCThrombospondin type 1 domain
TSP1_ADAMTSaa 482–534UCSCThrombospondin type 1 domain
TSP1_ADAMTSaa 568–625UCSCThrombospondin type 1 domain

Gene Aliases

HGNC Name

ADAMTS like 3

HGNC Alias Symbols

KIAA1233; punctin-2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 202 variants
9 papers
NM_207517.3
p.V661L
c.1981G>C
9 papers
NM_207517.3
p.V661L
c.1981G>T
8 papers
NM_207517.3
p.T1660I
c.4979C>T
6 papers
NM_207517.3
p.E893K
c.2677G>A
5 papers
NM_207517.3
p.L290V
c.868C>G
5 papers
NM_207517.3
p.G713R
c.2137G>A
5 papers
NM_207517.3
p.G713R
c.2137G>C
5 papers
NM_207517.3
p.L869F
c.2605C>T
4 papers
NM_207517.3
p.P935P
c.2805C>A
3 papers
NM_207517.3
p.H146R
c.437A>G
3 papers
NM_207517.3
p.R855C
c.2563C>T
3 papers
NM_207517.3
p.E1127K
c.3379G>A
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