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

1–12 of 99 variants

4 papers

NM_003812.4

p.S125A

c.373T>G

4 papers

NM_003812.4

p.V329M

c.985G>A

2 papers

NM_003812.4

p.S430L

c.1289C>T

2 papers

NM_003812.4

p.S473L

c.1418C>T

2 papers

NM_003812.4

p.T756delFs

c.2268delC

2 papers

NM_003812.4

p.P780A

c.2338C>G

1 paper

NM_003812.4

p.R9G

c.25C>G

1 paper

NM_003812.4

p.G24D

c.71G>A

1 paper

NM_003812.4

p.Q26H

c.78A>C

1 paper

NM_003812.4

p.Q26H

c.78A>T

1 paper

NM_003812.4

p.P43R

c.128C>G

1 paper

NM_003812.4

p.R45G

c.133C>G