Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB48
Variant:p.V626A

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.V626A
c.1877T>C
Surrounding Variants
1 paper
NM_005341.4
p.L616L
c.1848G>C
1 paper
NM_005341.4
p.Q610H
c.1830G>C
1 paper
NM_005341.4
p.Q610H
c.1830G>T
1 paper
NM_005341.4
p.E604K
c.1810G>A
1 paper
NM_005341.4
p.E664del1
c.1990_1991delGAG
3 papers
NM_005341.4
p.S675A
c.2023T>G
1 paper
NM_005341.4
p.S675C
c.2024C>G
1 paper
NM_005341.4
p.T679A
c.2035A>G
1 paper
NM_005341.4
p.E684K
c.2050G>A
1 paper
NM_005341.4
p.E579K
c.1735G>A
1 paper
NM_005341.4
p.V575fs
c.1723_1724fs
1 paper
NM_005341.4
p.V575insFs
c.1723dupG
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