Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L2

EPB41L2

78 papers

Pfam Domains

FERM_Naa 222–285UCSCFERM N-terminal domain
FERM_Maa 299–409UCSCFERM central domain
FERM_Caa 413–503UCSCFERM C-terminal PH-like domain
FAaa 507–550UCSCFERM adjacent (FA)
4_1_CTDaa 596–699UCSC4.1 protein C-terminal domain (CTD)
SABaa 630–676UCSCSAB domain

Gene Aliases

HGNC Name

erythrocyte membrane protein band 4.1 like 2

HGNC Alias Symbols

4.1-G; 4.1G

Papers
RefSeq ID
Protein change
DNA change
1–12 of 79 variants
2 papers
NM_001431.4
p.P79L
c.236C>T
1 paper
NM_001431.4
p.M1I
c.3G>T
1 paper
NM_001431.4
p.M1I
c.3G>C
1 paper
NM_001431.4
p.S15P
c.43T>C
1 paper
NM_001431.4
p.Q17H
c.51G>T
1 paper
NM_001431.4
p.Q17H
c.51G>C
1 paper
NM_001431.4
p.A31A
c.93A>T
1 paper
NM_001431.4
p.S47C
c.140C>G
1 paper
NM_001431.4
p.S58G
c.172A>G
1 paper
NM_001431.4
p.S58R
c.174T>A
1 paper
NM_001431.4
p.R61C
c.181C>T
1 paper
NM_001431.4
p.S69W
c.206C>G
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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."