Varaico: Literature-Extracted Genetic Variants

Gene:EHBP1L1
Variant:p.S214F

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.S214F
c.641C>T
Surrounding Variants
1 paper
NM_001099409.3
p.R215G
c.643C>G
1 paper
NM_001099409.3
p.R230*
c.688C>T
1 paper
NM_001099409.3
p.R257I
c.770G>T
1 paper
NM_001099409.3
p.R266L
c.797G>T
1 paper
NM_001099409.3
p.E269A
c.806A>C
1 paper
NM_001099409.3
p.G271E
c.812G>A
1 paper
NM_001099409.3
p.P282L
c.845C>T
1 paper
NM_001099409.3
p.R305W
c.913C>T
1 paper
NM_001099409.3
p.R305Q
c.914G>A
2 papers
NM_001099409.3
p.R307Q
c.920G>A
1 paper
NM_001099409.3
p.P318delFs
c.954delC
1 paper
NM_001099409.3
p.G320G
c.960G>C
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