Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L3
Variant:p.R432H

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.R432H
c.1295G>A
Surrounding Variants
1 paper
NM_012307.5
p.R425H
c.1274G>A
1 paper
NM_012307.5
p.T439I
c.1316C>T
1 paper
NM_012307.5
p.M440I
c.1320G>T
1 paper
NM_012307.5
p.M440I
c.1320G>C
1 paper
NM_012307.5
p.M440I
c.1320G>A
1 paper
NM_012307.5
p.A419T
c.1255G>A
1 paper
NM_012307.5
p.K397R
c.1190A>G
1 paper
NM_012307.5
p.L390L
c.1170G>T
1 paper
NM_012307.5
p.R388Splc
c.1164-1G>T
1 paper
NM_012307.5
p.R375H
c.1124G>A
1 paper
NM_012307.5
p.H370Y
c.1108C>T
1 paper
NM_012307.5
p.F359Y
c.1076T>A
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