Varaico: Literature-Extracted Genetic Variants

Gene:ZNF644
Variant:p.E305K

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
4 papers
NM_201269.3
p.E305K
c.913G>A
Surrounding Variants
1 paper
NM_201269.3
p.T304T
c.912C>A
1 paper
NM_201269.3
p.E305delFs
c.913delC
2 papers
NM_201269.3
p.R302C
c.904C>T
1 paper
NM_201269.3
p.K299R
c.896A>G
1 paper
NM_201269.3
p.K299*
c.895A>T
1 paper
NM_201269.3
p.S311C
c.932C>G
1 paper
NM_201269.3
p.C313G
c.937T>G
1 paper
NM_201269.3
p.V297L
c.889G>T
1 paper
NM_201269.3
p.V297L
c.889G>C
1 paper
NM_201269.3
p.K294N
c.882A>T
1 paper
NM_201269.3
p.K294N
c.882A>C
1 paper
NM_201269.3
p.R293Q
c.878G>A
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