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

8 papers

NM_018676.4

p.R224*

c.670C>T

Surrounding Variants

3 papers

NM_018676.4

p.R224G

c.670C>G

1 paper

NM_018676.4

p.D235Y

c.703G>T

1 paper

NM_018676.4

p.G241V

c.722G>T

17 papers

NM_018676.4

p.C206Y

c.617G>A

1 paper

NM_018676.4

p.E249K

c.745G>A

1 paper

NM_018676.4

p.Q198E

c.592C>G

1 paper

NM_018676.4

p.P262T

c.784C>A

1 paper

NM_018676.4

p.N173N

c.519C>T

1 paper

NM_018676.4

p.A278V

c.833C>T

1 paper

NM_018676.4

p.V166A

c.497T>C

3 papers

NM_018676.4

p.E291K

c.871G>A

1 paper

NM_018676.4

p.E291D

c.873A>T