Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L3
Variant:p.D85N

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.D85N
c.253G>A
Surrounding Variants
1 paper
NM_012307.5
p.Q80R
c.239A>G
1 paper
NM_012307.5
p.E78K
c.232G>A
1 paper
NM_012307.5
p.L96del1
c.286_288delGAG
1 paper
NM_012307.5
p.R98Q
c.293G>A
1 paper
NM_012307.5
p.A71V
c.212C>T
3 papers
NM_012307.5
p.S109I
c.326G>T
1 paper
NM_012307.5
p.Q111*
c.331C>T
1 paper
NM_012307.5
p.C112F
c.335G>T
1 paper
NM_012307.5
p.D118H
c.352G>C
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