Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L3
Variant:p.L625F

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.L625F
c.1873C>T
Surrounding Variants
1 paper
NM_012307.5
p.R628C
c.1882C>T
1 paper
NM_012307.5
p.R628L
c.1883G>T
1 paper
NM_012307.5
p.P634S
c.1900C>T
1 paper
NM_012307.5
p.L616I
c.1846C>A
2 papers
NM_012307.5
p.L637F
c.1909C>T
1 paper
NM_012307.5
p.L611I
c.1831C>A
1 paper
NM_012307.5
p.A646S
c.1936G>T
1 paper
NM_012307.5
p.D603V
c.1808A>T
1 paper
NM_012307.5
p.A653S
c.1957G>T
1 paper
NM_012307.5
p.Q591K
c.1771C>A
1 paper
NM_012307.5
p.L590W
c.1769T>G
1 paper
NM_012307.5
p.F588Y
c.1763T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."