Varaico: Literature-Extracted Genetic Variants

Gene:ENTREP1
Variant:p.C229fs

ENTREP1

27 papers

Pfam Domains

ENTREP_Caa 328–381UCSCEndosomal transmembrane epsin interactor C-terminal domain

Gene Aliases

HGNC Name

endosomal transmembrane epsin interactor 1

HGNC Previous Symbols

C9orf61; FAM189A2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001347995.2
p.C229fs
c.685_686fs
Surrounding Variants
1 paper
NM_001347995.2
p.A220V
c.659C>T
1 paper
NM_001347995.2
p.T215I
c.644C>T
1 paper
NM_001347995.2
p.L260F
c.778C>T
1 paper
NM_001127608.3
p.P160S
c.478C>T
1 paper
NM_001347995.2
p.P190fs
c.568_569fs
1 paper
NM_001347995.2
p.F185delFs
c.554_555delTT
1 paper
NM_001347995.2
p.A183V
c.548C>T
1 paper
NM_001347995.2
p.F185_R191delFs
c.553_572del20
1 paper
NM_001347995.2
p.G179S
c.535G>A
1 paper
NM_001347995.2
p.G179R
c.535G>C
1 paper
NM_001347995.2
p.F161I
c.481T>A
1 paper
NM_001347995.2
p.S368del1
c.1102_1104delTCA
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