Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB38
Variant:p.R503S

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.R503S
c.1509G>T
Surrounding Variants
1 paper
NM_001376113.1
p.R503S
c.1509G>C
1 paper
NM_001376113.1
p.E507Q
c.1519G>C
1 paper
NM_001376113.1
p.R515*
c.1543C>T
1 paper
NM_001376113.1
p.K536N
c.1608G>C
1 paper
NM_001376113.1
p.K536N
c.1608G>T
3 papers
NM_001376113.1
p.C462C
c.1386C>T
1 paper
NM_001376113.1
p.T551insFs
c.1651dupA
1 paper
NM_001376113.1
p.Q457E
c.1369C>G
1 paper
NM_001376113.1
p.A552T
c.1654G>A
2 papers
NM_001376113.1
p.P562L
c.1685C>T
1 paper
NM_001376113.1
p.S593N
c.1778G>A
2 papers
NM_001376113.1
p.T615M
c.1844C>T
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