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.P154P

c.462A>G

Surrounding Variants

1 paper

NM_018676.4

p.P154L

c.461C>T

1 paper

NM_018676.4

p.V166A

c.497T>C

1 paper

NM_018676.4

p.N173N

c.519C>T

1 paper

NM_018676.4

p.V125L

c.373G>T

1 paper

NM_018676.4

p.Q198E

c.592C>G

17 papers

NM_018676.4

p.C206Y

c.617G>A

1 paper

NM_018676.4

p.Y92_F93del2

c.274_278del6

1 paper

NM_018676.4

p.K87R

c.260A>G

8 papers

NM_018676.4

p.R224*

c.670C>T

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.N69K

c.207T>G