Varaico: Literature-Extracted Genetic Variants

Gene:ADAM7
Variant:p.A330S

ADAM7

82 papers

RefSeq Summary

This gene encodes a member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein la...

Pfam Domains

Pep_M12B_propepaa 27–114UCSCReprolysin family propeptide
Reprolysinaa 199–394UCSCReprolysin (M12B) family zinc metalloprotease
Disintegrinaa 411–483UCSCDisintegrin
ADAM_CRaa 488–602UCSCADAM cysteine-rich

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 7

HGNC Alias Symbols

GP-83; EAPI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003817.4
p.A330S
c.988G>T
Surrounding Variants
1 paper
NM_003817.4
p.D321Y
c.961G>T
1 paper
NM_003817.4
p.L341F
c.1021C>T
1 paper
NM_003817.4
p.M343K
c.1028T>A
1 paper
NM_003817.4
p.Q344Q
c.1032G>A
1 paper
NM_003817.4
p.P349P
c.1047A>G
1 paper
NM_003817.4
p.C357*
c.1071C>A
3 papers
NM_003817.4
p.V358M
c.1072G>A
1 paper
NM_003817.4
p.M359I
c.1077G>A
1 paper
NM_003817.4
p.M359I
c.1077G>C
1 paper
NM_003817.4
p.M359I
c.1077G>T
1 paper
NM_003817.4
p.S364R
c.1090A>C
1 paper
NM_003817.4
p.S364R
c.1092C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."