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.G753A

c.2258G>C

Surrounding Variants

1 paper

NM_024817.3

p.G753D

c.2258G>A

1 paper

NM_024817.3

p.G753fs

c.2257_2258fs

1 paper

NM_024817.3

p.C752insFs

c.2254_2255dupTG

1 paper

NM_024817.3

p.S747_C748Splc

c.2242-1G>A

2 papers

NM_024817.3

p.D773N

c.2317G>A

1 paper

NM_024817.3

p.C776_N777ins7

c.2326_2330ins21

1 paper

NM_024817.3

p.R781W

c.2341C>T

1 paper

NM_024817.3

p.R781Q

c.2342G>A

1 paper

NM_024817.3

p.W739*

c.2217G>A

1 paper

NM_024817.3

p.W739*

c.2216G>A

1 paper

NM_024817.3

p.L733H

c.2198T>A

1 paper

NM_024817.3

p.R718C

c.2152C>T