Varaico: Literature-Extracted Genetic Variants

ADAM21

97 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 ha...

Pfam Domains

Pep_M12B_propepaa 41–116UCSCReprolysin family propeptide

Reprolysinaa 208–398UCSCReprolysin (M12B) family zinc metalloprotease

Disintegrinaa 415–487UCSCDisintegrin

ADAM_CRaa 492–605UCSCADAM cysteine-rich

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 21

HGNC Alias Symbol

ADAM31

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003813.4

p.K160K

c.480G>A

Surrounding Variants

4 papers

NM_003813.4

p.I161V

c.481A>G

1 paper

NM_003813.4

p.Y159Y

c.477T>C

1 paper

NM_003813.4

p.N162_S163ins5

c.484_488ins15

1 paper

NM_003813.4

p.P169Q

c.506C>A

3 papers

NM_003813.4

p.Y143H

c.427T>C

1 paper

NM_003813.4

p.R133L

c.398G>T

3 papers

NM_003813.4

p.R133*

c.397C>T

8 papers

NM_003813.4

p.F129C

c.386T>G

1 paper

NM_003813.4

p.V124V

c.372G>A

1 paper

NM_003813.4

p.S199F

c.596C>T

1 paper

NM_003813.4

p.A117A

c.351A>T

6 papers

NM_003813.4

p.A117G

c.350C>G