Varaico: Literature-Extracted Genetic Variants

Gene:THSD7B
Variant:p.S1502L

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.S1502L
c.4505C>T
Surrounding Variants
1 paper
NM_001316349.2
p.F1505F
c.4515C>T
1 paper
NM_001316349.2
p.P1550L
c.4649C>T
1 paper
NM_001316349.2
p.G1560A
c.4679G>C
1 paper
NM_001316349.2
p.L1567P
c.4700T>C
1 paper
NM_001316349.2
p.L1572_S1576delFs
c.4715_4727del13
1 paper
NM_001316349.2
p.G1459E
c.4376G>A
1 paper
NM_001316349.2
p.G1454D
c.4361G>A
1 paper
NM_001316349.2
p.R1445Q
c.4334G>A
1 paper
NM_001316349.2
p.A1437E
c.4310C>A
1 paper
NM_001316349.2
p.W1435*
c.4305G>A
1 paper
NM_001316349.2
p.W1435*
c.4304G>A
1 paper
NM_001316349.2
p.G1427Splc
c.4280-7C>T
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