Varaico: Literature-Extracted Genetic Variants

Gene:EHBP1L1
Variant:p.R1478H

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.R1478H
c.4433G>A
Surrounding Variants
1 paper
NM_001099409.3
p.S1458Y
c.4373C>A
1 paper
NM_001099409.3
p.I1491Splc
c.4473-3C>T
1 paper
NM_001099409.3
p.L1493_L1499delFs
c.4477_4495del19
1 paper
NM_001099409.3
p.L1449V
c.4345C>G
1 paper
NM_001099409.3
p.R1508H
c.4523G>A
1 paper
NM_001099409.3
p.R1436*
c.4306C>T
1 paper
NM_001099409.3
p.M1429fs
c.4285_4286fs
2 papers
NM_001099409.3
p.I1419fs
c.4255_4256fs
1 paper
NM_001099409.3
p.N1416N
c.4248C>T
3 papers
NM_001099409.3
p.R1380Q
c.4139G>A
1 paper
NM_001099409.3
p.D1378N
c.4132G>A
1 paper
NM_001099409.3
p.Q1361*
c.4081C>T
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