Varaico: Literature-Extracted Genetic Variants

THSD7A

154 papers

RefSeq Summary

The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin t...

Pfam Domains

TSP1_ADAMTSaa 61–115UCSCThrombospondin type 1 domain

TSP1_spondinaa 195–246UCSCSpondin-like TSP1 domain

TSP1_spondinaa 361–416UCSCSpondin-like TSP1 domain

TSP1_spondinaa 635–694UCSCSpondin-like TSP1 domain

TSP_1aa 775–830UCSCThrombospondin type 1 domain

TSP_1aa 910–960UCSCThrombospondin type 1 domain

Gene Aliases

HGNC Name

thrombospondin type 1 domain containing 7A

HGNC Alias Symbol

KIAA0960

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015204.3

p.S849R

c.2547C>A

Surrounding Variants

1 paper

NM_015204.3

p.S849R

c.2547C>G

1 paper

NM_015204.3

p.V850M

c.2548G>A

1 paper

NM_015204.3

p.S849R

c.2545A>C

1 paper

NM_015204.3

p.W848G

c.2542T>G

1 paper

NM_015204.3

p.R865L

c.2594G>T

1 paper

NM_015204.3

p.A826V

c.2477C>T

1 paper

NM_015204.3

p.E820K

c.2458G>A

1 paper

NM_015204.3

p.I803V

c.2407A>G

1 paper

NM_015204.3

p.R801W

c.2401C>T

1 paper

NM_015204.3

p.S792C

c.2375C>G

1 paper

NM_015204.3

p.S786S

c.2358G>A

1 paper

NM_015204.3

p.S786L

c.2357C>T