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

1–12 of 142 variants

4 papers

NM_024817.3

p.D395N

c.1183G>A

3 papers

NM_024817.3

p.G19R

c.55G>A

2 papers

NM_024817.3

p.R141Q

c.422G>A

2 papers

NM_024817.3

p.Q187H

c.561G>C

2 papers

NM_024817.3

p.F326L

c.976T>C

2 papers

NM_024817.3

p.F326L

c.978C>A

2 papers

NM_024817.3

p.F326L

c.978C>G

2 papers

NM_024817.3

p.R355H

c.1064G>A

2 papers

NM_024817.3

p.D389N

c.1165G>A

2 papers

NM_024817.3

p.V431M

c.1291G>A

2 papers

NM_024817.3

p.E444K

c.1330G>A

2 papers

NM_024817.3

p.D773N

c.2317G>A