Varaico: Literature-Extracted Genetic Variants

Gene:EHBP1L1
Variant:p.G1156S

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.G1156S
c.3466G>A
Surrounding Variants
1 paper
NM_001099409.3
p.L1146L
c.3436C>T
1 paper
NM_001099409.3
p.E1145E
c.3435G>A
1 paper
NM_001099409.3
p.A1139T
c.3415G>A
1 paper
NM_001099409.3
p.R1181Q
c.3542G>A
1 paper
NM_001099409.3
p.P1116delFs
c.3347delC
2 papers
NM_001099409.3
p.R1112fs
c.3334_3335fs
2 papers
NM_001099409.3
p.S1111_P1116Fs
c.3333_3346delinsAGAGTCAGTAGCAFs
1 paper
NM_001099409.3
p.D1103N
c.3307G>A
1 paper
NM_001099409.3
p.E1233_V1234del2
c.3697_3701del6
1 paper
NM_001099409.3
p.N1241D
c.3721A>G
1 paper
NM_001099409.3
p.G1263V
c.3788G>T
1 paper
NM_001099409.3
p.G1272C
c.3814G>T
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