Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB38
Variant:p.R1030K

ZBTB38

85 papers

RefSeq Summary

The protein encoded by this gene is a zinc finger transcriptional activator that binds methylated DNA. The encoded protein can form homodimers or heterodimers through the zinc finger domains. In mouse...

Pfam Domains

BTBaa 23–130UCSCBTB/POZ domain
zf-C2H2aa 460–482UCSCZinc finger, C2H2 type
zf-C2H2aa 1038–1060UCSCZinc finger, C2H2 type
zf-C2H2aa 1066–1088UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger and BTB domain containing 38

HGNC Alias Symbols

FLJ35036; CIBZ; ZNF921; PPP1R171

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001376113.1
p.R1030K
c.3089G>A
Surrounding Variants
1 paper
NM_001376113.1
p.R1045Q
c.3134G>A
1 paper
NM_001376113.1
p.R1008W
c.3022C>T
1 paper
NM_001376113.1
p.K1055R
c.3164A>G
1 paper
NM_001376113.1
p.K991E
c.2971A>G
1 paper
NM_001376113.1
p.E1079A
c.3236A>C
1 paper
NM_001376113.1
p.T1089S
c.3265A>T
1 paper
NM_001376113.1
p.T1089S
c.3266C>G
1 paper
NM_001376113.1
p.V962M
c.2884G>A
1 paper
NM_001376113.1
p.C1099delFs
c.3297delC
1 paper
NM_001376113.1
p.Q1101fs
c.3301_3302fs
1 paper
NM_001376113.1
p.E957*
c.2869G>T
1 paper
NM_001376113.1
p.R940W
c.2818A>T
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