Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL3
Variant:p.G1027R

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
Selected Variant
2 papers
NM_207517.3
p.G1027R
c.3079G>A
Surrounding Variants
2 papers
NM_207517.3
p.G1027R
c.3079G>C
1 paper
NM_207517.3
p.M1036T
c.3107T>C
1 paper
NM_207517.3
p.M1036I
c.3108G>A
1 paper
NM_207517.3
p.M1036I
c.3108G>C
1 paper
NM_207517.3
p.M1036I
c.3108G>T
1 paper
NM_207517.3
p.D1047V
c.3140A>T
2 papers
NM_207517.3
p.R1005H
c.3014G>A
1 paper
NM_207517.3
p.R1001W
c.3001C>T
1 paper
NM_207517.3
p.I996V
c.2986A>G
1 paper
NM_207517.3
p.A1058fs
c.3172_3173fs
1 paper
NM_207517.3
p.A1067G
c.3200C>G
1 paper
NM_207517.3
p.G1068*
c.3202G>T
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