Varaico: Literature-Extracted Genetic Variants

Gene:THSD7B
Variant:p.R799Splc

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.R799Splc
c.2396+2C>T
Surrounding Variants
1 paper
NM_001316349.2
p.R799W
c.2395C>T
1 paper
NM_001316349.2
p.P796R
c.2387C>G
1 paper
NM_001316349.2
p.D791V
c.2372A>T
1 paper
NM_001316349.2
p.I809L
c.2425A>C
1 paper
NM_001316349.2
p.E813D
c.2439G>C
1 paper
NM_001316349.2
p.E813D
c.2439G>T
1 paper
NM_001316349.2
p.T820M
c.2459C>T
1 paper
NM_001316349.2
p.E824V
c.2471A>T
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