Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB40
Variant:p.R627K

ZBTB40

85 papers

Pfam Domains

BTBaa 14–116UCSCBTB/POZ domain
zf-C2H2aa 836–858UCSCZinc finger, C2H2 type
zf-C2H2aa 893–915UCSCZinc finger, C2H2 type
zf-C2H2aa 921–944UCSCZinc finger, C2H2 type
zf-C2H2aa 978–1000UCSCZinc finger, C2H2 type
zf-metaa 1135–1157UCSCZinc-finger of C2H2 type

Gene Aliases

HGNC Name

zinc finger and BTB domain containing 40

HGNC Alias Symbols

KIAA0478; ZNF923

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014870.4
p.R627K
c.1880G>A
Surrounding Variants
1 paper
NM_014870.4
p.E642G
c.1925A>G
1 paper
NM_014870.4
p.Y666insFs
c.1996_1997insC
1 paper
NM_014870.4
p.T671T
c.2013T>C
1 paper
NM_014870.4
p.K685T
c.2054A>C
1 paper
NM_014870.4
p.N691S
c.2072A>G
1 paper
NM_014870.4
p.A698T
c.2092G>A
1 paper
NM_014870.4
p.S703I
c.2108G>T
1 paper
NM_014870.4
p.P705L
c.2114C>T
1 paper
NM_014870.4
p.P718T
c.2152C>A
1 paper
NM_014870.4
p.S735I
c.2204G>T
1 paper
NM_014870.4
p.R750H
c.2249G>A
1 paper
NM_014870.4
p.R759W
c.2275C>T
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