Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L5
Variant:p.M1insFs

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.M1insFs
c.2_3insT
Surrounding Variants
1 paper
NM_020909.4
p.L2_S3insT
c.4_8ins3
2 papers
NM_020909.4
p.R6H
c.17G>A
1 paper
NM_020909.4
p.M14V
c.40A>G
1 paper
NM_020909.4
p.R24G
c.70C>G
1 paper
NM_020909.4
p.E25*
c.73G>T
1 paper
NM_020909.4
p.A26V
c.77C>T
1 paper
NM_020909.4
p.R28C
c.82C>T
1 paper
NM_020909.4
p.R28R
c.84C>T
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