Varaico: Literature-Extracted Genetic Variants

ADAMTS18

235 papers

RefSeq Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a prop...

Pfam Domains

Pep_M12B_propepaa 62–150UCSCReprolysin family propeptide

Reprolysinaa 294–498UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 511–578UCSCADAMTS cysteine-rich domain 2

TSP_1aa 593–643UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 646–748UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 750–861UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 18

HGNC Previous Symbol

ADAMTS21

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_199355.4

p.L1045F

c.3133C>T

Surrounding Variants

1 paper

NM_199355.4

p.R1047*

c.3139C>T

1 paper

NM_199355.4

p.R1047Q

c.3140G>A

2 papers

NM_199355.4

p.C1048C

c.3144C>T

1 paper

NM_199355.4

p.P1037P

c.3111T>G

4 papers

NM_199355.4

p.R1053W

c.3157C>T

1 paper

NM_199355.4

p.R1053Q

c.3158G>A

1 paper

NM_199355.4

p.L1054fs

c.3160_3161fs

1 paper

NM_199355.4

p.L1054delFs

c.3161delA

1 paper

NM_199355.4

p.P1035S

c.3103C>T

1 paper

NM_199355.4

p.C1031delFs

c.3092delC

1 paper

NM_199355.4

p.P1027P

c.3081C>A

1 paper

NM_199355.4

p.S1062delins

c.3185_3186delinsAA