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.V635L

c.1903G>C

Surrounding Variants

1 paper

NM_145004.7

p.V635L

c.1903G>T

1 paper

NM_145004.7

p.R656C

c.1966C>T

1 paper

NM_145004.7

p.W683R

c.2047T>A

1 paper

NM_145004.7

p.W683R

c.2047T>C

1 paper

NM_145004.7

p.P692S

c.2074C>T

2 papers

NM_145004.7

p.G634R

c.1900G>A

1 paper

NM_145004.7

p.G634R

c.1900G>C

1 paper

NM_145004.7

p.S631F

c.1892C>T

1 paper

NM_145004.7

p.C630S

c.1889G>C

1 paper

NM_145004.7

p.C630S

c.1888T>A

1 paper

NM_145004.7

p.Q629*

c.1885C>T

1 paper

NM_145004.7

p.C626Y

c.1877G>A