Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L2
Variant:p.I78M

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
Selected Variant
1 paper
NM_001431.4
p.I78M
c.234A>G
Surrounding Variants
2 papers
NM_001431.4
p.P79L
c.236C>T
1 paper
NM_001431.4
p.S69W
c.206C>G
1 paper
NM_001431.4
p.A93T
c.277G>A
1 paper
NM_001431.4
p.G96*
c.286G>T
1 paper
NM_001431.4
p.R61C
c.181C>T
1 paper
NM_001431.4
p.S58R
c.174T>A
1 paper
NM_001431.4
p.S58G
c.172A>G
1 paper
NM_001431.4
p.S47C
c.140C>G
1 paper
NM_001431.4
p.K114delFs
c.341_342delTT
1 paper
NM_001431.4
p.E120K
c.358G>A
1 paper
NM_001431.4
p.A31A
c.93A>T
1 paper
NM_001431.4
p.K135R
c.404A>G
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