Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL5

ADAMTSL5

27 papers

Pfam Domains

TSP_1aa 39–86UCSCThrombospondin type 1 domain
ADAMTS_CR_3aa 90–190UCSCADAMTS cysteine-rich domain
ADAMTS_spacer1aa 192–301UCSCADAM-TS Spacer 1
NTRaa 364–467UCSCUNC-6/NTR/C345C module

Gene Aliases

HGNC Name

ADAMTS like 5

HGNC Previous Symbol

THSD6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
2 papers
NM_213604.3
p.R432H
c.1295G>A
2 papers
NM_213604.3
p.R467W
c.1399C>T
1 paper
NM_213604.3
p.P8A
c.22C>G
1 paper
NM_213604.3
p.P8L
c.23C>T
1 paper
NM_213604.3
p.W44*
c.131G>A
1 paper
NM_213604.3
p.W44*
c.132G>A
1 paper
NM_213604.3
p.L63L
c.189C>A
1 paper
NM_213604.3
p.S75F
c.224C>T
1 paper
NM_213604.3
p.G108S
c.322G>A
1 paper
NM_213604.3
p.G160G
c.480C>T
1 paper
NM_213604.3
p.R161H
c.482G>A
1 paper
NM_213604.3
p.G166S
c.496G>A
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