Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L5
Variant:p.M411R

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.M411R
c.1232T>G
Surrounding Variants
1 paper
NM_020909.4
p.W409C
c.1227G>C
1 paper
NM_020909.4
p.W409C
c.1227G>T
1 paper
NM_020909.4
p.A414S
c.1240G>T
1 paper
NM_020909.4
p.V417L
c.1249G>C
1 paper
NM_020909.4
p.V417L
c.1249G>T
1 paper
NM_020909.4
p.I421L
c.1261A>C
1 paper
NM_020909.4
p.I421V
c.1261A>G
1 paper
NM_020909.4
p.D443Y
c.1327G>T
1 paper
NM_020909.4
p.N403S
c.1208A>G
1 paper
NM_020909.4
p.C446Splc
c.1337+3162T>G
1 paper
NM_020909.4
p.S393Splc
c.1178+1G>T
1 paper
NM_020909.4
p.F367L
c.1101T>A
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