Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L3
Variant:p.L464V

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.L464V
c.1390T>G
Surrounding Variants
1 paper
NM_012307.5
p.G458R
c.1372G>C
1 paper
NM_012307.5
p.Q452L
c.1355A>T
1 paper
NM_012307.5
p.R478W
c.1432C>T
1 paper
NM_012307.5
p.R478Q
c.1433G>A
1 paper
NM_012307.5
p.D479Y
c.1435G>T
1 paper
NM_012307.5
p.P493A
c.1477C>G
3 papers
NM_012307.5
p.R498Q
c.1493G>A
2 papers
NM_012307.5
p.K502_S503Splc
c.1506+1G>T
1 paper
NM_012307.5
p.L506R
c.1517T>G
1 paper
NM_012307.5
p.L513S
c.1538T>C
1 paper
NM_012307.5
p.R530R
c.1590G>A
1 paper
NM_012307.5
p.M440I
c.1320G>T
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