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.E89A

c.266A>C

Surrounding Variants

1 paper

NM_003812.4

p.D90Y

c.268G>T

1 paper

NM_003812.4

p.V85_L86del1

c.255_257delCCT

1 paper

NM_003812.4

p.Q95Q

c.285G>A

1 paper

NM_003812.4

p.N96Y

c.286A>T

1 paper

NM_003812.4

p.A106S

c.316G>T

1 paper

NM_003812.4

p.P114T

c.340C>A

1 paper

NM_003812.4

p.L117F

c.349C>T

4 papers

NM_003812.4

p.S125A

c.373T>G

1 paper

NM_003812.4

p.H130R

c.389A>G

1 paper

NM_003812.4

p.N143delFs

c.428delA

1 paper

NM_003812.4

p.N143fs

c.427_428fs

1 paper

NM_003812.4

p.L51P

c.152T>C