Varaico: Literature-Extracted Genetic Variants

Gene:EHBP1L1
Variant:p.L864R

EHBP1L1

97 papers

Pfam Domains

NT-C2aa 12–164UCSCN-terminal C2 in EEIG1 and EHBP1 proteins
CHaa 1037–1142UCSCCalponin homology (CH) domain
bMERB_domaa 1363–1499UCSCBivalent Mical/EHBP Rab binding domain

Gene Aliases

HGNC Name

EH domain binding protein 1 like 1

HGNC Alias Symbols

DKFZp762C186; TANGERIN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001099409.3
p.L864R
c.2591T>G
Surrounding Variants
1 paper
NM_001099409.3
p.I871I
c.2613T>C
1 paper
NM_001099409.3
p.V873F
c.2617G>T
1 paper
NM_001099409.3
p.P854L
c.2561C>T
1 paper
NM_001099409.3
p.G847R
c.2539G>A
1 paper
NM_001099409.3
p.G847R
c.2539G>C
1 paper
NM_001099409.3
p.S884L
c.2651C>T
1 paper
NM_001099409.3
p.V893L
c.2677G>C
1 paper
NM_001099409.3
p.S895C
c.2683A>T
1 paper
NM_001099409.3
p.R910K
c.2729G>A
1 paper
NM_001099409.3
p.T816S
c.2447C>G
1 paper
NM_001099409.3
p.T816S
c.2446A>T
1 paper
NM_001099409.3
p.S922_G923del2
c.2764_2768del6
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