Varaico: Literature-Extracted Genetic Variants

Gene:DEPTOR
Variant:p.L227L

DEPTOR

86 papers

Pfam Domains

DEPaa 48–117UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)
DEPaa 48–117UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)
DEPaa 148–217UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)

Gene Aliases

HGNC Name

DEP domain containing MTOR interacting protein

HGNC Previous Symbol

DEPDC6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022783.4
p.L227L
c.681G>A
Surrounding Variants
1 paper
NM_022783.4
p.F221_R224del4
c.661_671del12
1 paper
NM_022783.4
p.M219I
c.657G>A
1 paper
NM_022783.4
p.M219I
c.657G>C
1 paper
NM_022783.4
p.M219I
c.657G>T
1 paper
NM_022783.4
p.Q239K
c.715C>A
1 paper
NM_022783.4
p.H242P
c.725A>C
1 paper
NM_022783.4
p.D243N
c.727G>A
2 papers
NM_022783.4
p.S211C
c.631A>T
2 papers
NM_022783.4
p.N204S
c.611A>G
1 paper
NM_022783.4
p.D254E
c.762C>A
1 paper
NM_022783.4
p.D254E
c.762C>G
1 paper
NM_022783.4
p.V264Splc
c.791-8C>G
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