Varaico: Literature-Extracted Genetic Variants

Gene:EHBP1L1
Variant:p.V133L

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
3 papers
NM_001099409.3
p.V133L
c.397G>C
Surrounding Variants
3 papers
NM_001099409.3
p.V133L
c.397G>T
1 paper
NM_001099409.3
p.Q130*
c.388C>T
1 paper
NM_001099409.3
p.G125R
c.373G>A
1 paper
NM_001099409.3
p.R110Q
c.329G>A
1 paper
NM_001099409.3
p.R110ins3
c.328_329ins9
2 papers
NM_001099409.3
p.A172T
c.514G>A
1 paper
NM_001099409.3
p.M175I
c.525G>A
1 paper
NM_001099409.3
p.M175I
c.525G>C
1 paper
NM_001099409.3
p.M175I
c.525G>T
1 paper
NM_001099409.3
p.K178K
c.534G>A
1 paper
NM_001099409.3
p.P179L
c.536C>T
1 paper
NM_001099409.3
p.D181delFs
c.541delG
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