Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L3
Variant:p.S686S

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.S686S
c.2058A>G
Surrounding Variants
1 paper
NM_012307.5
p.S686L
c.2057C>T
1 paper
NM_012307.5
p.E689Q
c.2065G>C
1 paper
NM_012307.5
p.D684Y
c.2050G>T
1 paper
NM_012307.5
p.N680S
c.2039A>G
1 paper
NM_012307.5
p.A676V
c.2027C>T
1 paper
NM_012307.5
p.A676T
c.2026G>A
2 papers
NM_012307.5
p.A672V
c.2015C>T
1 paper
NM_012307.5
p.A653S
c.1957G>T
1 paper
NM_012307.5
p.A646S
c.1936G>T
2 papers
NM_012307.5
p.L637F
c.1909C>T
1 paper
NM_012307.5
p.P634S
c.1900C>T
1 paper
NM_012307.5
p.R628L
c.1883G>T
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