Varaico: Literature-Extracted Genetic Variants

Gene:THSD7B
Variant:p.P748S

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.P748S
c.2242C>T
Surrounding Variants
1 paper
NM_001316349.2
p.P750S
c.2248C>T
1 paper
NM_001316349.2
p.D737fs
c.2209_2210fs
1 paper
NM_001316349.2
p.K736insFs
c.2208dupA
1 paper
NM_001316349.2
p.L732I
c.2194C>A
2 papers
NM_001316349.2
p.R723Q
c.2168G>A
1 paper
NM_001316349.2
p.K716Q
c.2146A>C
1 paper
NM_001316349.2
p.T693M
c.2078C>T
1 paper
NM_001316349.2
p.E675K
c.2023G>A
1 paper
NM_001316349.2
p.W670*
c.2010G>A
1 paper
NM_001316349.2
p.W670*
c.2009G>A
1 paper
NM_001316349.2
p.D657N
c.1969G>A
1 paper
NM_001316349.2
p.G639Splc
c.1916-69A>C
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