Varaico: Literature-Extracted Genetic Variants

Gene:ADD2
Variant:p.M463K

ADD2

106 papers

RefSeq Summary

Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skele...

Pfam Domains

Aldolase_IIaa 135–317UCSCClass II Aldolase and Adducin N-terminal domain

Gene Aliases

HGNC Name

adducin 2

HGNC Alias Symbol

ADDB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001617.4
p.M463K
c.1388T>A
Surrounding Variants
1 paper
NM_001617.4
p.R478H
c.1433G>A
1 paper
NM_001617.4
p.I479N
c.1436T>A
1 paper
NM_001617.4
p.I479I
c.1437C>T
2 papers
NM_001617.4
p.E480K
c.1438G>A
1 paper
NM_001617.4
p.K501*
c.1501A>T
1 paper
NM_001617.4
p.G454D
c.1361G>A
1 paper
NM_001617.4
p.E429K
c.1285G>A
1 paper
NM_001617.4
p.A423V
c.1268C>T
1 paper
NM_001617.4
p.R420Q
c.1259G>A
1 paper
NM_001617.4
p.T403M
c.1208C>T
1 paper
NM_001617.4
p.A513V
c.1538C>T
1 paper
NM_001617.4
p.L519I
c.1555C>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."