Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L5
Variant:p.R87*

EPB41L5

59 papers

Pfam Domains

FERM_Naa 47–109UCSCFERM N-terminal domain
FERM_Maa 125–235UCSCFERM central domain
FERM_Caa 239–331UCSCFERM C-terminal PH-like domain
FAaa 337–378UCSCFERM adjacent (FA)

Gene Aliases

HGNC Name

erythrocyte membrane protein band 4.1 like 5

HGNC Alias Symbols

KIAA1548; FLJ12957; BE37; YMO1; YRT; LULU; LULU1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020909.4
p.R87*
c.259A>T
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