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.T756delFs

c.2268delC

Surrounding Variants

1 paper

NM_003812.4

p.C757fs

c.2269_2270fs

1 paper

NM_003812.4

p.C757fs

c.2269_2270fs

1 paper

NM_003812.4

p.V750L

c.2248G>C

1 paper

NM_003812.4

p.V750L

c.2248G>T

1 paper

NM_003812.4

p.D767G

c.2300A>G

1 paper

NM_003812.4

p.P780T

c.2338C>A

1 paper

NM_003812.4

p.P780fs

c.2338_2339fs

2 papers

NM_003812.4

p.P780A

c.2338C>G

1 paper

NM_003812.4

p.P780R

c.2339C>G

1 paper

NM_003812.4

p.K781fs

c.2341_2342fs

1 paper

NM_003812.4

p.K781fs

c.2341_2342fs

1 paper

NM_003812.4

p.K786N

c.2358G>C