Varaico: Literature-Extracted Genetic Variants

Gene:ZAN
Variant:p.E85Splc

ZAN

159 papers

RefSeq Summary

This gene encodes a protein that functions in the species specificity of sperm adhesion to the egg zona pellucida. The encoded protein is located in the acrosome and may be involved in signaling or ga...

Pfam Domains

MAMaa 41–203UCSCMAM domain, meprin/A5/mu
MAMaa 211–367UCSCMAM domain, meprin/A5/mu
MAMaa 373–535UCSCMAM domain, meprin/A5/mu
TILaa 1044–1093UCSCTrypsin Inhibitor like cysteine rich domain
TILaaa 1094–1148UCSCTILa domain
VWDaa 1156–1308UCSCvon Willebrand factor type D domain

Gene Aliases

HGNC Name

zonadhesin

HGNC Previous Name

zonadhesin (gene/pseudogene)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003386.3
p.E85Splc
c.254-17G>A
Surrounding Variants
10 papers
NM_003386.3
p.L89delFs
c.266delT
1 paper
NM_003386.3
p.L135delFs
c.403delC
1 paper
NM_003386.3
p.G139R
c.415G>C
1 paper
NM_003386.3
p.G79E
c.236G>A
1 paper
NM_003386.3
p.P78_G79delFs
c.234_235delCG
1 paper
NM_003386.3
p.R65Q
c.194G>A
1 paper
NM_003386.3
p.T165A
c.493A>G
1 paper
NM_003386.3
p.T165I
c.494C>T
1 paper
NM_003386.3
p.G169R
c.505G>A
1 paper
NM_003386.3
p.G169R
c.505G>C
1 paper
NM_003386.3
p.R199P
c.596G>C
1 paper
NM_003386.3
p.R33W
c.97A>T
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