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

4 papers

NM_199355.4

p.S1080R

c.3238A>C

Surrounding Variants

4 papers

NM_199355.4

p.S1080R

c.3240C>G

4 papers

NM_199355.4

p.S1080R

c.3240C>A

8 papers

NM_199355.4

p.C1079R

c.3235T>C

1 paper

NM_199355.4

p.K1078N

c.3234G>T

1 paper

NM_199355.4

p.K1078N

c.3234G>C

1 paper

NM_199355.4

p.R1075M

c.3224G>T

1 paper

NM_199355.4

p.K1087R

c.3260A>G

1 paper

NM_199355.4

p.P1092T

c.3274C>A

1 paper

NM_199355.4

p.A1066P

c.3196G>C

1 paper

NM_199355.4

p.R1094*

c.3280C>T

1 paper

NM_199355.4

p.R1094Q

c.3281G>A

1 paper

NM_199355.4

p.R1097H

c.3290G>A