Varaico: Literature-Extracted Genetic Variants

Gene:EHBP1L1
Variant:p.G1335Splc

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
4 papers
NM_001099409.3
p.G1335Splc
c.4004-1G>A
NM_001351087.2
p.G577Splc
c.1730-1G>A
Surrounding Variants
1 paper
NM_001099409.3
p.P1345T
c.4033C>A
1 paper
NM_001099409.3
p.R1355Q
c.4064G>A
1 paper
NM_001099409.3
p.Q1361*
c.4081C>T
1 paper
NM_001099409.3
p.D1378N
c.4132G>A
3 papers
NM_001099409.3
p.R1380Q
c.4139G>A
1 paper
NM_001099409.3
p.N1416N
c.4248C>T
2 papers
NM_001099409.3
p.I1419fs
c.4255_4256fs
1 paper
NM_001099409.3
p.M1429fs
c.4285_4286fs
1 paper
NM_001099409.3
p.R1436*
c.4306C>T
1 paper
NM_001099409.3
p.L1449V
c.4345C>G
1 paper
NM_001099409.3
p.S1458Y
c.4373C>A
1 paper
NM_001099409.3
p.R1478H
c.4433G>A
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."