Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L3
Variant:p.T1020M

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.T1020M
c.3059C>T
Surrounding Variants
1 paper
NM_012307.5
p.Q1007E
c.3019C>G
1 paper
NM_012307.5
p.S1005N
c.3014G>A
1 paper
NM_012307.5
p.T1042M
c.3125C>T
1 paper
NM_012307.5
p.I985V
c.2953A>G
1 paper
NM_012307.5
p.L968I
c.2902C>A
1 paper
NM_012307.5
p.G965R
c.2893G>C
1 paper
NM_012307.5
p.G965R
c.2893G>A
1 paper
NM_012307.5
p.P963L
c.2888C>T
1 paper
NM_012307.5
p.T953M
c.2858C>T
4 papers
NM_012307.5
p.T950K
c.2849C>A
1 paper
NM_012307.5
p.S1068*
c.3203C>G
1 paper
NM_012307.5
p.S1068*
c.3203C>A
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