Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB48
Variant:p.H313fs

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.H313fs
c.937_938fs
Surrounding Variants
1 paper
NM_005341.4
p.H313Q
c.939T>A
1 paper
NM_005341.4
p.H313Q
c.939T>G
1 paper
NM_005341.4
p.K312insFs
c.936dupA
1 paper
NM_005341.4
p.G325delFs
c.975delG
1 paper
NM_005341.4
p.K326fs
c.976_977fs
1 paper
NM_005341.4
p.Q348_V349Splc
c.1045-2A>G
2 papers
NM_005341.4
p.R360C
c.1078C>T
1 paper
NM_005341.4
p.A408E
c.1223C>A
1 paper
NM_005341.4
p.T411S
c.1231A>T
1 paper
NM_005341.4
p.T411S
c.1232C>G
1 paper
NM_005341.4
p.K414K
c.1242G>A
1 paper
NM_005341.4
p.L424L
c.1272G>A
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