Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L3
Variant:p.V571A

EPB41L3

130 papers

Pfam Domains

FERM_Naa 114–177UCSCFERM N-terminal domain
FERM_Maa 191–301UCSCFERM central domain
FERM_Caa 305–395UCSCFERM C-terminal PH-like domain
FAaa 398–441UCSCFERM adjacent (FA)
SABaa 427–475UCSCSAB domain
SABaa 548–596UCSCSAB domain

Gene Aliases

HGNC Name

erythrocyte membrane protein band 4.1 like 3

HGNC Alias Symbols

DAL1; KIAA0987; 4.1B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012307.5
p.V571A
c.1712T>C
Surrounding Variants
1 paper
NM_012307.5
p.D570N
c.1708G>A
3 papers
NM_012307.5
p.Y575C
c.1724A>G
1 paper
NM_012307.5
p.Y565Y
c.1695C>T
1 paper
NM_012307.5
p.R563S
c.1689G>T
1 paper
NM_012307.5
p.R563S
c.1689G>C
1 paper
NM_012307.5
p.G582R
c.1744G>A
1 paper
NM_012307.5
p.G582V
c.1745G>T
3 papers
NM_012307.5
p.A555T
c.1663G>A
1 paper
NM_012307.5
p.F588Y
c.1763T>A
1 paper
NM_012307.5
p.L590W
c.1769T>G
1 paper
NM_012307.5
p.Q591K
c.1771C>A
1 paper
NM_012307.5
p.D603V
c.1808A>T
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