Varaico: Literature-Extracted Genetic Variants

Gene:ZNF644
Variant:p.S1054*

ZNF644

124 papers

RefSeq Summary

The protein encoded by this gene is a zinc finger transcription factor that may play a role in eye development. Defects in this gene have been associated with high myopia. Three transcript variants en...

Pfam Domains

zf-C2H2aa 448–470UCSCZinc finger, C2H2 type
zf-WIZaa 1256–1290UCSCZinc finger found in WIZ protein

Gene Aliases

HGNC Name

zinc finger protein 644

HGNC Alias Symbols

KIAA1221; BM-005; MGC60165; MGC70410

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_201269.3
p.S1054*
c.3161C>A
Surrounding Variants
1 paper
NM_201269.3
p.S1054*
c.3161C>G
2 papers
NM_201269.3
p.G1059V
c.3176G>T
1 paper
NM_201269.3
p.G1045C
c.3133G>T
1 paper
NM_201269.3
p.H1072N
c.3214C>A
1 paper
NM_201269.3
p.T1035N
c.3104C>A
3 papers
NM_201269.3
p.E1087D
c.3261A>T
3 papers
NM_201269.3
p.E1087D
c.3261A>C
8 papers
NM_201269.3
p.Y1089C
c.3266A>G
1 paper
NM_201269.3
p.R1099C
c.3295C>T
2 papers
NM_201269.3
p.R1100H
c.3299G>A
1 paper
NM_201269.3
p.L1132L
c.3396A>G
1 paper
NM_201269.3
p.R1024*
c.3070C>T
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