Varaico: Literature-Extracted Genetic Variants

Gene:THSD7B
Variant:p.A889D

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.A889D
c.2666C>A
Surrounding Variants
1 paper
NM_001316349.2
p.A876V
c.2627C>T
1 paper
NM_001316349.2
p.L860P
c.2579T>C
1 paper
NM_001316349.2
p.L859L
c.2577C>T
1 paper
NM_001316349.2
p.C850Y
c.2549G>A
1 paper
NM_001316349.2
p.A834Splc
c.2501-11C>T
1 paper
NM_001316349.2
p.S910S
c.2730T>C
1 paper
NM_001316349.2
p.L920R
c.2759T>G
1 paper
NM_001316349.2
p.D955H
c.2863G>C
1 paper
NM_001316349.2
p.D955E
c.2865C>A
1 paper
NM_001316349.2
p.D955E
c.2865C>G
1 paper
NM_001316349.2
p.E958*
c.2872G>T
1 paper
NM_001316349.2
p.D979N
c.2935G>A
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