Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL5
Variant:p.R463C

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
Selected Variant
1 paper
NM_213604.3
p.R463C
c.1387C>T
Surrounding Variants
1 paper
NM_213604.3
p.R461C
c.1381C>T
2 papers
NM_213604.3
p.R467W
c.1399C>T
1 paper
NM_213604.3
p.A457E
c.1370C>A
1 paper
NM_213604.3
p.Q440H
c.1320G>C
2 papers
NM_213604.3
p.R432H
c.1295G>A
1 paper
NM_213604.3
p.A360S
c.1078G>T
1 paper
NM_213604.3
p.C350S
c.1049G>C
1 paper
NM_213604.3
p.C350S
c.1048T>A
1 paper
NM_213604.3
p.R325Q
c.974G>A
1 paper
NM_213604.3
p.R320M
c.959G>T
1 paper
NM_213604.3
p.S306R
c.918C>G
1 paper
NM_213604.3
p.S306R
c.918C>A
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