Varaico: Literature-Extracted Genetic Variants

Gene:ZNF644
Variant:p.D227V

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.D227V
c.680A>T
Surrounding Variants
1 paper
NM_201269.3
p.V224_G225del0
c.670_675del6
1 paper
NM_201269.3
p.K234_D235insAA
c.700_704ins6
1 paper
NM_201269.3
p.D235H
c.703G>C
1 paper
NM_201269.3
p.L218L
c.654A>G
6 papers
NM_201269.3
p.T242M
c.725C>T
1 paper
NM_201269.3
p.T248S
c.742A>T
1 paper
NM_201269.3
p.S199_D203delFs
c.595_607del13
1 paper
NM_201269.3
p.D256A
c.767A>C
4 papers
NM_201269.3
p.A198T
c.592G>A
2 papers
NM_201269.3
p.S197S
c.591T>C
1 paper
NM_201269.3
p.P187L
c.560C>T
1 paper
NM_201269.3
p.F268L
c.802T>C
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