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

1 paper

NM_003812.4

p.R412K

c.1235G>A

Surrounding Variants

1 paper

NM_003812.4

p.R410H

c.1229G>A

1 paper

NM_003812.4

p.L401L

c.1203G>A

1 paper

NM_003812.4

p.S430W

c.1289C>G

2 papers

NM_003812.4

p.S430L

c.1289C>T

1 paper

NM_003812.4

p.Q440H

c.1320A>C

1 paper

NM_003812.4

p.Q440H

c.1320A>T

1 paper

NM_003812.4

p.H387Y

c.1159C>T

1 paper

NM_003812.4

p.E355K

c.1063G>A

1 paper

NM_003812.4

p.T343_R344insFs

c.1027_1030dup4

1 paper

NM_003812.4

p.N342T

c.1025A>C

1 paper

NM_003812.4

p.L341_V345delFs

c.1023_1033del11

1 paper

NM_003812.4

p.E339D

c.1017G>C