Varaico: Literature-Extracted Genetic Variants

ADAM32

58 papers

RefSeq Summary

This gene encodes a member of the disintegrin family of membrane-anchored proteins that play a role in diverse biological processes such as brain development, fertilization, tumor development and infl...

Pfam Domains

Pep_M12B_propepaa 37–109UCSCReprolysin family propeptide

Reprolysinaa 193–332UCSCReprolysin (M12B) family zinc metalloprotease

Disintegrinaa 305–375UCSCDisintegrin

ADAM_CRaa 380–495UCSCADAM cysteine-rich

Disintegrinaa 400–474UCSCDisintegrin

EGF_Teneurinaa 527–557UCSCTeneurin-like EGF domain

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 32

HGNC Previous Name

a disintegrin and metalloproteinase domain 32

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_145004.7

p.D778E

c.2334C>G

Surrounding Variants

3 papers

NM_145004.7

p.D778E

c.2334C>A

1 paper

NM_145004.7

p.T782K

c.2345C>A

1 paper

NM_145004.7

p.S786Splc

c.2357+87G>A

1 paper

NM_145004.7

p.Q742K

c.2224C>A