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

1 paper

NM_145004.7

p.S525*

c.1574C>A

Surrounding Variants

1 paper

NM_145004.7

p.S525*

c.1574C>G

1 paper

NM_145004.7

p.S525delFs

c.1574delC

1 paper

NM_145004.7

p.D534Y

c.1600G>T

1 paper

NM_145004.7

p.F515S

c.1544T>C

1 paper

NM_145004.7

p.C554Y

c.1661G>A

1 paper

NM_145004.7

p.R559Q

c.1676G>A

1 paper

NM_145004.7

p.P561T

c.1681C>A

1 paper

NM_145004.7

p.T581T

c.1743T>C

1 paper

NM_145004.7

p.E503K

c.1507G>A

1 paper

NM_145004.7

p.D492G

c.1475A>G

2 papers

NM_145004.7

p.T467S

c.1400C>G

2 papers

NM_145004.7

p.T467S

c.1399A>T