Varaico: Literature-Extracted Genetic Variants

Gene:ENTREP2
Variant:p.S438fs

ENTREP2

43 papers

Pfam Domains

CD20aa 34–199UCSCCD20-like family
ENTREP_Caa 483–536UCSCEndosomal transmembrane epsin interactor C-terminal domain

Gene Aliases

HGNC Name

endosomal transmembrane epsin interactor 2

HGNC Previous Symbol

FAM189A1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015307.2
p.S438fs
c.1312_1313fs
Surrounding Variants
1 paper
NM_015307.2
p.S438_T442delFs
c.1313_1325del13
1 paper
NM_015307.2
p.R463delFs
c.1387delG
1 paper
NM_015307.2
p.R463fs
c.1387_1388fs
1 paper
NM_015307.2
p.T465A
c.1393A>G
1 paper
NM_015307.2
p.R476W
c.1426C>T
1 paper
NM_015307.2
p.V493L
c.1477G>T
1 paper
NM_015307.2
p.V493L
c.1477G>C
3 papers
NM_015307.2
p.Q538P
c.1613A>C
3 papers
NM_015307.2
p.V431A
c.1292T>C
1 paper
NM_015307.2
p.E429A
c.1286A>C
1 paper
NM_015307.2
p.R393H
c.1178G>A
1 paper
NM_015307.2
p.V376fs
c.1126_1127fs
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