Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L5
Variant:p.N166S

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.N166S
c.497A>G
Surrounding Variants
1 paper
NM_020909.4
p.K151Splc
c.452+1G>A
1 paper
NM_020909.4
p.S149G
c.445A>G
1 paper
NM_020909.4
p.L148I
c.442C>A
1 paper
NM_020909.4
p.L143F
c.429A>C
1 paper
NM_020909.4
p.L143F
c.429A>T
1 paper
NM_020909.4
p.R136Splc
c.408-10T>A
1 paper
NM_020909.4
p.Y174*
c.522T>A
1 paper
NM_020909.4
p.E182Q
c.544G>C
1 paper
NM_020909.4
p.P191A
c.571C>G
1 paper
NM_020909.4
p.P191H
c.572C>A
1 paper
NM_020909.4
p.Q215H
c.645G>C
1 paper
NM_020909.4
p.Q215H
c.645G>T
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