Varaico: Literature-Extracted Genetic Variants

Gene:THSD7B
Variant:p.L1598*

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.L1598*
c.4793T>A
Surrounding Variants
1 paper
NM_001316349.2
p.L1598*
c.4793T>G
1 paper
NM_001316349.2
p.T1597N
c.4790C>A
1 paper
NM_001316349.2
p.L1572_S1576delFs
c.4715_4727del13
1 paper
NM_001316349.2
p.L1567P
c.4700T>C
1 paper
NM_001316349.2
p.G1560A
c.4679G>C
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