Varaico: Literature-Extracted Genetic Variants

Gene:EHBP1L1
Variant:p.V538G

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.V538G
c.1613T>G
Surrounding Variants
1 paper
NM_001099409.3
p.A549A
c.1647C>A
1 paper
NM_001099409.3
p.E519*
c.1555G>T
1 paper
NM_001099409.3
p.E510_V511ins3
c.1530_1531ins9
1 paper
NM_001099409.3
p.D494G
c.1481A>G
1 paper
NM_001099409.3
p.S462F
c.1385C>T
2 papers
NM_001099409.3
p.T454I
c.1361C>T
1 paper
NM_001099409.3
p.Q428K
c.1282C>A
1 paper
NM_001099409.3
p.S419L
c.1256C>T
1 paper
NM_001099409.3
p.R411_A412delFs
c.1233_1234delAG
1 paper
NM_001099409.3
p.R667K
c.2000G>A
2 papers
NM_001099409.3
p.A671V
c.2012C>T
1 paper
NM_001099409.3
p.V677L
c.2029G>T
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