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

1–12 of 338 variants

8 papers

NM_199355.4

p.C1079R

c.3235T>C

7 papers

NM_199355.4

p.S179L

c.536C>T

7 papers

NM_199355.4

p.Y191H

c.571T>C

6 papers

NM_199355.4

p.L769I

c.2305C>A

6 papers

NM_199355.4

p.S1159T

c.3476G>C

5 papers

NM_199355.4

p.T433N

c.1298C>A

5 papers

NM_199355.4

p.C577W

c.1731C>G

5 papers

NM_199355.4

p.A946S

c.2836G>T

4 papers

NM_199355.4

p.Q33*

c.97C>T

4 papers

NM_199355.4

p.R651Q

c.1952G>A

4 papers

NM_199355.4

p.R1053W

c.3157C>T

4 papers

NM_199355.4

p.S1080R

c.3238A>C