Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L5
Variant:p.R523Q

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.R523Q
c.1568G>A
Surrounding Variants
1 paper
NM_020909.4
p.D504N
c.1510G>A
1 paper
NM_020909.4
p.T501Splc
c.1502-6T>A
1 paper
NM_020909.4
p.E498G
c.1493A>G
1 paper
NM_020909.4
p.T463M
c.1388C>T
3 papers
NM_020909.4
p.A462T
c.1384G>A
1 paper
NM_020909.4
p.S456R
c.1368C>A
1 paper
NM_020909.4
p.S456R
c.1368C>G
1 paper
NM_020909.4
p.S456R
c.1366A>C
1 paper
NM_020909.4
p.L454P
c.1361T>C
1 paper
NM_020909.4
p.P448A
c.1342C>G
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