Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB48
Variant:p.Q452H

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.Q452H
c.1356G>T
Surrounding Variants
1 paper
NM_005341.4
p.Q452H
c.1356G>C
1 paper
NM_005341.4
p.H425Y
c.1273C>T
1 paper
NM_005341.4
p.L424L
c.1272G>A
1 paper
NM_005341.4
p.K414K
c.1242G>A
1 paper
NM_005341.4
p.T411S
c.1232C>G
1 paper
NM_005341.4
p.T411S
c.1231A>T
1 paper
NM_005341.4
p.A408E
c.1223C>A
1 paper
NM_005341.4
p.E462K
c.1384G>A
1 paper
NM_005341.4
p.Q476fs
c.1426_1427fs
1 paper
NM_005341.4
p.T486A
c.1456A>G
1 paper
NM_005341.4
p.R503Q
c.1508G>A
1 paper
NM_005341.4
p.T504T
c.1512C>A
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