Varaico: Literature-Extracted Genetic Variants

THSD4

15q23 (UCSC)OMIM PanelApp GTEx

84 papers

Pfam Domains

TSP_1aa 57–92UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 310–411UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 413–528UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

thrombospondin type 1 domain containing 4

HGNC Alias Symbols

FVSY9334; PRO34005; FLJ13710; ADAMTSL6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024817.3

p.R232H

c.695G>A

Surrounding Variants

1 paper

NM_024817.3

p.A238V

c.713C>T

1 paper

NM_024817.3

p.Y225*

c.675C>A

1 paper

NM_024817.3

p.Y225*

c.675C>G

1 paper

NM_024817.3

p.H221P

c.662A>C

1 paper

NM_024817.3

p.L247delFs

c.740delT

1 paper

NM_024817.3

p.L247*

c.740T>A

1 paper

NM_024817.3

p.T248I

c.743C>T

1 paper

NM_024817.3

p.Y253_F260delFs

c.759_778del20

1 paper

NM_024817.3

p.A256_S262delFs

c.767_786del20

1 paper

NM_024817.3

p.S257*

c.770C>A

1 paper

NM_024817.3

p.S257*

c.770C>G

1 paper

NM_024817.3

p.L259insFs

c.776_777ins7