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

1–12 of 82 variants

17 papers

NM_018676.4

p.C206Y

c.617G>A

8 papers

NM_018676.4

p.R224*

c.670C>T

8 papers

NM_018676.4

p.R450*

c.1348C>T

4 papers

NM_018676.4

p.L5F

c.15G>T

4 papers

NM_018676.4

p.L5F

c.15G>C

4 papers

NM_018676.4

p.R460W

c.1378C>T

4 papers

NM_018676.4

p.E466G

c.1397A>G

4 papers

NM_018676.4

p.G600E

c.1799G>A

4 papers

NM_018676.4

p.P639L

c.1916C>T

4 papers

NM_018676.4

p.T653I

c.1958C>T

3 papers

NM_018676.4

p.R224G

c.670C>G

3 papers

NM_018676.4

p.E291K

c.871G>A