Varaico: Literature-Extracted Genetic Variants

Gene:ZNF644
Variant:p.S616*

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.S616*
c.1847C>G
Surrounding Variants
1 paper
NM_201269.3
p.S616*
c.1847C>A
1 paper
NM_201269.3
p.D624H
c.1870G>C
1 paper
NM_201269.3
p.T595_Y607del13
c.1783_1820del39
1 paper
NM_201269.3
p.R626delFs
c.1876_1877delCT
1 paper
NM_201269.3
p.L601F
c.1803A>T
1 paper
NM_201269.3
p.L601F
c.1803A>C
1 paper
NM_201269.3
p.E633K
c.1897G>A
1 paper
NM_201269.3
p.K645E
c.1933A>G
1 paper
NM_201269.3
p.I587L
c.1759A>T
6 papers
NM_201269.3
p.I587V
c.1759A>G
1 paper
NM_201269.3
p.I587L
c.1759A>C
1 paper
NM_201269.3
p.K582fs
c.1744_1745fs
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