Varaico: Literature-Extracted Genetic Variants

Gene:DENND5B
Variant:p.E518K

DENND5B

70 papers

Pfam Domains

uDENNaa 92–154UCSCuDENN domain
DENNaa 222–410UCSCDENN (AEX-3) domain
dDENNaa 576–627UCSCdDENN domain
RUNaa 815–963UCSCRUN domain
PLATaa 973–1078UCSCPLAT/LH2 domain
RUNaa 1161–1302UCSCRUN domain

Gene Aliases

HGNC Name

DENN domain containing 5B

HGNC Alias Symbol

MGC24039

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144973.4
p.E518K
c.1552G>A
Surrounding Variants
1 paper
NM_144973.4
p.E518G
c.1553A>G
1 paper
NM_144973.4
p.Y517F
c.1550A>T
1 paper
NM_144973.4
p.A519T
c.1555G>A
1 paper
NM_144973.4
p.A519V
c.1556C>T
1 paper
NM_144973.4
p.T511_A515del0
c.1533_1544del12
1 paper
NM_144973.4
p.F520S
c.1559T>C
1 paper
NM_144973.4
p.A515V
c.1544C>T
1 paper
NM_144973.4
p.A515G
c.1544C>G
1 paper
NM_144973.4
p.F514V
c.1540T>G
1 paper
NM_144973.4
p.I522V
c.1564A>G
1 paper
NM_144973.4
p.M513V
c.1537A>G
1 paper
NM_144973.4
p.Q512H
c.1536G>T
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