Varaico: Literature-Extracted Genetic Variants

Gene:EDARADD
Variant:p.L3_T6del4

EDARADD

117 papers

RefSeq Summary

This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this g...

Pfam Domains

Deathaa 100–177UCSCDeath domain

Gene Aliases

HGNC Name

EDAR associated via death domain

HGNC Previous Name

EDAR associated death domain

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145861.4
p.L3_T6del4
c.7_17del12
Surrounding Variants
1 paper
NM_145861.4
p.M1K
c.2T>A
1 paper
NM_145861.4
p.M1T
c.2T>C
1 paper
NM_145861.4
p.G2insFs
c.5dupG
1 paper
NM_145861.4
p.M1_G2delFs
c.3_6del4
1 paper
NM_145861.4
p.M1L
c.1A>C
1 paper
NM_145861.4
p.M1V
c.1A>G
3 papers
NM_145861.4
p.M1L
c.1A>T
1 paper
NM_145861.4
p.T5P
c.13A>C
1 paper
NM_145861.4
p.T6_A15delFs
c.18_43del26
1 paper
NM_145861.4
p.M9R
c.26T>G
10 papers
NM_145861.4
p.M9I
c.27G>A
8 papers
NM_145861.4
p.M9I
c.27G>C
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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."