Varaico: Literature-Extracted Genetic Variants

Gene:THSD7B
Variant:p.D484N

THSD7B

117 papers

Pfam Domains

TSP1_ADAMTSaa 44–97UCSCThrombospondin type 1 domain
TSP1_spondinaa 180–232UCSCSpondin-like TSP1 domain
TSP1_spondinaa 337–392UCSCSpondin-like TSP1 domain
TSP1_spondinaa 602–660UCSCSpondin-like TSP1 domain
TSP1_ADAMTSaa 689–738UCSCThrombospondin type 1 domain
TSP1_spondinaa 738–795UCSCSpondin-like TSP1 domain

Gene Aliases

HGNC Name

thrombospondin type 1 domain containing 7B

HGNC Alias Symbol

KIAA1679

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001316349.2
p.D484N
c.1450G>A
Surrounding Variants
1 paper
NM_001316349.2
p.L495P
c.1484T>C
1 paper
NM_001316349.2
p.I497T
c.1490T>C
1 paper
NM_001316349.2
p.A470T
c.1408G>A
1 paper
NM_001316349.2
p.G468R
c.1402G>A
2 papers
NM_001316349.2
p.D503E
c.1509T>A
1 paper
NM_001316349.2
p.D503E
c.1509T>G
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