Varaico: Literature-Extracted Genetic Variants

Gene:EHBP1L1
Variant:p.R50H

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.R50H
c.149G>A
Surrounding Variants
1 paper
NM_001099409.3
p.R47Q
c.140G>A
1 paper
NM_001099409.3
p.R47R
c.139C>A
1 paper
NM_001099409.3
p.R47del1
c.139_140delCGG
1 paper
NM_001099409.3
p.R46H
c.137G>A
1 paper
NM_001099409.3
p.R46C
c.136C>T
1 paper
NM_001099409.3
p.R46_R47del1
c.138_140delTCG
1 paper
NM_001099409.3
p.W44C
c.132G>T
1 paper
NM_001099409.3
p.Q63*
c.187C>T
1 paper
NM_001099409.3
p.E76D
c.228G>C
1 paper
NM_001099409.3
p.E76D
c.228G>T
1 paper
NM_001099409.3
p.T83T
c.249C>G
1 paper
NM_001099409.3
p.R110ins3
c.328_329ins9
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