Varaico: Literature-Extracted Genetic Variants

ADAM23

92 papers

RefSeq Summary

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and hav...

Pfam Domains

Pep_M12B_propepaa 110–203UCSCReprolysin family propeptide

Reprolysinaa 299–496UCSCReprolysin (M12B) family zinc metalloprotease

Disintegrinaa 511–583UCSCDisintegrin

ADAM_CRaa 588–706UCSCADAM cysteine-rich

EGF_2aa 736–768UCSCEGF-like domain

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 23

HGNC Alias Symbol

MDC3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003812.4

p.S473L

c.1418C>T

Surrounding Variants

1 paper

NM_003812.4

p.S473*

c.1418C>A

1 paper

NM_003812.4

p.S473*

c.1418C>G

1 paper

NM_003812.4

p.C475Y

c.1424G>A

1 paper

NM_003812.4

p.R470L

c.1409G>T

1 paper

NM_003812.4

p.R470*

c.1408C>T

1 paper

NM_003812.4

p.R481G

c.1441A>G

1 paper

NM_003812.4

p.D482G

c.1445A>G

1 paper

NM_003812.4

p.R486T

c.1457G>C

1 paper

NM_003812.4

p.T497A

c.1489A>G

1 paper

NM_003812.4

p.C518insFs

c.1552dupT

1 paper

NM_003812.4

p.Q440H

c.1320A>C

1 paper

NM_003812.4

p.Q440H

c.1320A>T