Varaico: Literature-Extracted Genetic Variants

Gene:THSD7B
Variant:p.P524S

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.P524S
c.1570C>T
Surrounding Variants
1 paper
NM_001316349.2
p.G526R
c.1576G>A
1 paper
NM_001316349.2
p.G526R
c.1576G>C
1 paper
NM_001316349.2
p.E520D
c.1560A>C
1 paper
NM_001316349.2
p.E520D
c.1560A>T
1 paper
NM_001316349.2
p.E520A
c.1559A>C
1 paper
NM_001316349.2
p.Q514L
c.1541A>T
1 paper
NM_001316349.2
p.P554S
c.1660C>T
1 paper
NM_001316349.2
p.R574C
c.1720C>T
2 papers
NM_001316349.2
p.R574H
c.1721G>A
1 paper
NM_001316349.2
p.G575R
c.1723G>A
1 paper
NM_001316349.2
p.G575R
c.1723G>C
1 paper
NM_001316349.2
p.G575E
c.1724G>A
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