Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB40
Variant:p.S600L

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.S600L
c.1799C>T
Surrounding Variants
10 papers
NM_014870.4
p.Y595C
c.1784A>G
1 paper
NM_014870.4
p.H581R
c.1742A>G
1 paper
NM_014870.4
p.D561N
c.1681G>A
1 paper
NM_014870.4
p.A560fs
c.1678_1679fs
1 paper
NM_014870.4
p.A560delFs
c.1679delC
1 paper
NM_014870.4
p.Q525*
c.1573C>T
1 paper
NM_014870.4
p.G513fs
c.1537_1538fs
1 paper
NM_014870.4
p.D508_S509insFs
c.1524_1525ins13
1 paper
NM_014870.4
p.D508fs
c.1522_1523fs
1 paper
NM_014870.4
p.Y469S
c.1406A>C
1 paper
NM_014870.4
p.Y469C
c.1406A>G
1 paper
NM_014870.4
p.R627K
c.1880G>A
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