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.T685K

c.2054C>A

Surrounding Variants

1 paper

NM_018676.4

p.A678fs

c.2032_2033fs

1 paper

NM_018676.4

p.A678insFs

c.2032dupG

1 paper

NM_018676.4

p.R694I

c.2081G>T

4 papers

NM_018676.4

p.T653I

c.1958C>T

4 papers

NM_018676.4

p.P639L

c.1916C>T

1 paper

NM_018676.4

p.H757fs

c.2269_2270fs

1 paper

NM_018676.4

p.H757insFs

c.2270dupA

1 paper

NM_018676.4

p.R606G

c.1816A>G

3 papers

NM_199263.3

p.K715R

c.2144A>G

NM_018676.4

p.K768R

c.2303A>G

4 papers

NM_018676.4

p.G600E

c.1799G>A

3 papers

NM_018676.4

p.S775P

c.2323T>C

1 paper

NM_018676.4

p.P590L

c.1769C>T