Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L5
Variant:p.R335Q

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.R335Q
c.1004G>A
Surrounding Variants
1 paper
NM_020909.4
p.R335L
c.1004G>T
2 papers
NM_020909.4
p.H334Y
c.1000C>T
1 paper
NM_020909.4
p.R326Q
c.977G>A
1 paper
NM_020909.4
p.F367L
c.1099T>C
1 paper
NM_020909.4
p.F367L
c.1101T>A
1 paper
NM_020909.4
p.F367L
c.1101T>G
1 paper
NM_020909.4
p.S393Splc
c.1178+1G>T
1 paper
NM_020909.4
p.P269P
c.807G>A
1 paper
NM_020909.4
p.W268Splc
c.804-6T>G
1 paper
NM_020909.4
p.N403S
c.1208A>G
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