Varaico: Literature-Extracted Genetic Variants

THSD1

81 papers

RefSeq Summary

The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Altern...

Pfam Domains

THSD1_Naa 26–125UCSCTHSD1 N-terminal domain

THSD1_D2aa 128–234UCSCTHSD1 second Ig-like domain

THSD1_D3aa 241–338UCSCTHSD1 third Ig-like domain

TSP_1aa 344–392UCSCThrombospondin type 1 domain

Gene Aliases

HGNC Name

thrombospondin type 1 domain containing 1

HGNC Alias Symbol

TMTSP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018676.4

p.P506P

c.1518C>T

Surrounding Variants

1 paper

NM_199263.3

p.P450S

c.1348C>T

1 paper

NM_018676.4

p.S518F

c.1553C>T

3 papers

NM_018676.4

p.Q521*

c.1561C>T

1 paper

NM_018676.4

p.D491H

c.1471G>C

1 paper

NM_018676.4

p.P489Q

c.1466C>A

1 paper

NM_018676.4

p.S488G

c.1462A>G

1 paper

NM_018676.4

p.G482R

c.1444G>C

1 paper

NM_018676.4

p.G482R

c.1444G>A

1 paper

NM_018676.4

p.M540insFs

c.1619dupT

1 paper

NM_018676.4

p.M540fs

c.1618_1619fs

1 paper

NM_018676.4

p.K543fs

c.1627_1628fs

1 paper

NM_018676.4

p.K543_G544delFs

c.1627_1630del4