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

1–12 of 83 variants

3 papers

NM_145004.7

p.D778E

c.2334C>A

3 papers

NM_145004.7

p.D778E

c.2334C>G

2 papers

NM_145004.7

p.S115F

c.344C>T

2 papers

NM_145004.7

p.V126I

c.376G>A

2 papers

NM_145004.7

p.T467S

c.1399A>T

2 papers

NM_145004.7

p.T467S

c.1400C>G

2 papers

NM_145004.7

p.G634R

c.1900G>A

1 paper

NM_145004.7

p.D40N

c.118G>A

1 paper

NM_145004.7

p.Y46_E47Splc

c.139-2326G>A

1 paper

NM_145004.7

p.E47fs

c.139_140fs

1 paper

NM_145004.7

p.F69L

c.205T>C

1 paper

NM_145004.7

p.F69L

c.207T>A