Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L3
Variant:p.R806*

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
2 papers
NM_012307.5
p.R806*
c.2416C>T
Surrounding Variants
1 paper
NM_012307.5
p.E810Q
c.2428G>C
1 paper
NM_012307.5
p.G813E
c.2438G>A
1 paper
NM_012307.5
p.V815F
c.2443G>T
1 paper
NM_012307.5
p.E797Q
c.2389G>C
2 papers
NM_012307.5
p.M793T
c.2378T>C
1 paper
NM_012307.5
p.Q786*
c.2356C>T
1 paper
NM_012307.5
p.T830T
c.2490G>A
1 paper
NM_012307.5
p.S832A
c.2494T>G
1 paper
NM_012307.5
p.S833C
c.2497A>T
1 paper
NM_012307.5
p.G834V
c.2501G>T
1 paper
NM_012307.5
p.L844P
c.2531T>C
1 paper
NM_012307.5
p.R861R
c.2583G>A
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