Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB48

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
1–12 of 59 variants
3 papers
NM_005341.4
p.S675A
c.2023T>G
2 papers
NM_005341.4
p.R360C
c.1078C>T
1 paper
NM_005341.4
p.Q7*
c.19C>T
1 paper
NM_005341.4
p.V12I
c.34G>A
1 paper
NM_005341.4
p.Q14P
c.41A>C
1 paper
NM_005341.4
p.A28T
c.82G>A
1 paper
NM_005341.4
p.G34A
c.101G>C
1 paper
NM_005341.4
p.H49Y
c.145C>T
1 paper
NM_005341.4
p.Q52*
c.154C>T
1 paper
NM_005341.4
p.Q94R
c.281A>G
1 paper
NM_005341.4
p.A98P
c.292G>C
1 paper
NM_005341.4
p.R103R
c.307C>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."