Varaico: Literature-Extracted Genetic Variants

Gene:EHBP1L1
Variant:p.V677L

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.V677L
c.2029G>T
Surrounding Variants
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.T730K
c.2189C>A
1 paper
NM_001099409.3
p.S746delFs
c.2236delT
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.A549A
c.1647C>A
4 papers
NM_001099409.3
p.V538G
c.1613T>G
1 paper
NM_001099409.3
p.T816S
c.2446A>T
1 paper
NM_001099409.3
p.T816S
c.2447C>G
1 paper
NM_001099409.3
p.E519*
c.1555G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."