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

2 papers

NM_024817.3

p.E444K

c.1330G>A

Surrounding Variants

2 papers

NM_024817.3

p.V431M

c.1291G>A

1 paper

NM_024817.3

p.R429H

c.1286G>A

1 paper

NM_024817.3

p.V417M

c.1249G>A

1 paper

NM_001286429.2

p.G46_T49ins1

c.137_145dup9

4 papers

NM_024817.3

p.D395N

c.1183G>A

1 paper

NM_024817.3

p.G393G

c.1179C>T

1 paper

NM_024817.3

p.D389G

c.1166A>G

2 papers

NM_024817.3

p.D389N

c.1165G>A

1 paper

NM_024817.3

p.G387fs

c.1159_1160fs

1 paper

NM_024817.3

p.G387delFs

c.1159_1160delGG