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.Y92_F93del2

c.274_278del6

Surrounding Variants

1 paper

NM_018676.4

p.K87R

c.260A>G

1 paper

NM_018676.4

p.N69K

c.207T>G

1 paper

NM_018676.4

p.N69K

c.207T>A

1 paper

NM_018676.4

p.V125L

c.373G>T

1 paper

NM_018676.4

p.L62R

c.185T>G

1 paper

NM_018676.4

p.V59delFs

c.175_176delAC

1 paper

NM_018676.4

p.G54W

c.160G>T

1 paper

NM_018676.4

p.V44M

c.130G>A

1 paper

NM_018676.4

p.P154L

c.461C>T

1 paper

NM_018676.4

p.P154P

c.462A>G

1 paper

NM_018676.4

p.E31delFs

c.92_93delCT

1 paper

NM_018676.4

p.E31fs

c.91_92fs