Varaico: Literature-Extracted Genetic Variants

Gene:THSD7B
Variant:p.W408*

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
2 papers
NM_001316349.2
p.W408*
c.1223G>A
Surrounding Variants
2 papers
NM_001316349.2
p.W408*
c.1224G>A
1 paper
NM_001316349.2
p.Q412*
c.1234C>T
1 paper
NM_001316349.2
p.Q419H
c.1257G>C
1 paper
NM_001316349.2
p.Q419H
c.1257G>T
2 papers
NM_001316349.2
p.Q420H
c.1260G>C
2 papers
NM_001316349.2
p.Q420H
c.1260G>T
1 paper
NM_001316349.2
p.T427M
c.1280C>T
1 paper
NM_001316349.2
p.T427T
c.1281G>A
1 paper
NM_001316349.2
p.G432V
c.1295G>T
1 paper
NM_001316349.2
p.E439K
c.1315G>A
1 paper
NM_001316349.2
p.A451T
c.1351G>A
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