Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB48
Variant:p.A98P

ZBTB48

43 papers

Pfam Domains

BTBaa 16–119UCSCBTB/POZ domain
zf-C2H2aa 319–340UCSCZinc finger, C2H2 type
zf-C2H2aa 350–372UCSCZinc finger, C2H2 type
zf-C2H2aa 465–487UCSCZinc finger, C2H2 type
zf-C2H2aa 493–515UCSCZinc finger, C2H2 type
zf-C2H2aa 550–572UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger and BTB domain containing 48

HGNC Previous Symbol

HKR3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005341.4
p.A98P
c.292G>C
Surrounding Variants
1 paper
NM_005341.4
p.Q94R
c.281A>G
1 paper
NM_005341.4
p.R103R
c.307C>A
1 paper
NM_005341.4
p.C111*
c.333C>A
1 paper
NM_005341.4
p.Q52*
c.154C>T
1 paper
NM_005341.4
p.H49Y
c.145C>T
1 paper
NM_005341.4
p.E152D
c.456A>C
1 paper
NM_005341.4
p.E152D
c.456A>T
1 paper
NM_005341.4
p.G34A
c.101G>C
1 paper
NM_005341.4
p.P166R
c.497C>G
1 paper
NM_005341.4
p.A28T
c.82G>A
1 paper
NM_005341.4
p.Q14P
c.41A>C
1 paper
NM_005341.4
p.Q182K
c.544C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."