Varaico: Literature-Extracted Genetic Variants

Gene:EHBP1L1
Variant:p.S746delFs

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.S746delFs
c.2236delT
Surrounding Variants
1 paper
NM_001099409.3
p.T730K
c.2189C>A
1 paper
NM_001099409.3
p.L774F
c.2322G>C
1 paper
NM_001099409.3
p.L774F
c.2322G>T
1 paper
NM_001099409.3
p.A791S
c.2371G>T
1 paper
NM_001099409.3
p.V677L
c.2029G>T
1 paper
NM_001099409.3
p.T816S
c.2446A>T
1 paper
NM_001099409.3
p.T816S
c.2447C>G
2 papers
NM_001099409.3
p.A671V
c.2012C>T
1 paper
NM_001099409.3
p.R667K
c.2000G>A
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.P854L
c.2561C>T
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