Varaico: Literature-Extracted Genetic Variants

Gene:EHBP1L1
Variant:p.V1057D

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.V1057D
c.3170T>A
Surrounding Variants
1 paper
NM_001099409.3
p.G1056G
c.3168C>T
1 paper
NM_001099409.3
p.R1058H
c.3173G>A
1 paper
NM_001099409.3
p.I1059T
c.3176T>C
1 paper
NM_001099409.3
p.Y1054C
c.3161A>G
1 paper
NM_001099409.3
p.S1040delFs
c.3120delC
1 paper
NM_001099409.3
p.R1078*
c.3232C>T
2 papers
NM_001099409.3
p.D1082G
c.3245A>G
1 paper
NM_001099409.3
p.D1085N
c.3253G>A
1 paper
NM_001099409.3
p.D1090N
c.3268G>A
1 paper
NM_001099409.3
p.Q1031_A1032Splc
c.3093+3A>G
1 paper
NM_001099409.3
p.A1012V
c.3035C>T
1 paper
NM_001099409.3
p.S1006N
c.3017G>A
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