Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L3
Variant:p.R156*

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.R156*
c.466C>T
Surrounding Variants
1 paper
NM_012307.5
p.E159K
c.475G>A
1 paper
NM_012307.5
p.F151_G152delins
c.453_454delinsTT
1 paper
NM_012307.5
p.F136L
c.408T>A
1 paper
NM_012307.5
p.W164*
c.491G>A
1 paper
NM_012307.5
p.W164*
c.492G>A
1 paper
NM_012307.5
p.K173fs
c.517_518fs
2 papers
NM_012307.5
p.K173delFs
c.519delT
1 paper
NM_012307.5
p.W180S
c.539G>C
2 papers
NM_012307.5
p.H181Y
c.541C>T
1 paper
NM_012307.5
p.L196L
c.586C>T
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