Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L3
Variant:p.S247R

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.S247R
c.741C>G
Surrounding Variants
1 paper
NM_012307.5
p.S247R
c.741C>A
1 paper
NM_012307.5
p.S247R
c.739A>C
1 paper
NM_012307.5
p.E252D
c.756G>T
1 paper
NM_012307.5
p.E252D
c.756G>C
1 paper
NM_012307.5
p.E269K
c.805G>A
1 paper
NM_012307.5
p.F222delFs
c.666delA
1 paper
NM_012307.5
p.F222fs
c.664_665fs
1 paper
NM_012307.5
p.R217M
c.650G>T
1 paper
NM_012307.5
p.G216R
c.646G>C
1 paper
NM_012307.5
p.G216R
c.646G>A
1 paper
NM_012307.5
p.V214M
c.640G>A
1 paper
NM_012307.5
p.D211N
c.631G>A
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