Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L4B
Variant:p.Y156*

EPB41L4B

44 papers

Pfam Domains

FERM_Naa 89–152UCSCFERM N-terminal domain
FERM_Maa 167–277UCSCFERM central domain
FERM_Caa 281–373UCSCFERM C-terminal PH-like domain
FAaa 379–420UCSCFERM adjacent (FA)

Gene Aliases

HGNC Name

erythrocyte membrane protein band 4.1 like 4B

HGNC Alias Symbols

EHM2; LULU2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019114.5
p.Y156*
c.468T>G
Surrounding Variants
1 paper
NM_019114.5
p.Y156*
c.468T>A
1 paper
NM_019114.5
p.R173C
c.517C>T
1 paper
NM_019114.5
p.P197L
c.590C>T
1 paper
NM_019114.5
p.E217K
c.649G>A
1 paper
NM_019114.5
p.E228G
c.683A>G
1 paper
NM_019114.5
p.P233L
c.698C>T
1 paper
NM_019114.5
p.P233Q
c.698C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."