Varaico: Literature-Extracted Genetic Variants

Gene:ZNF644
Variant:p.E274V

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
6 papers
NM_201269.3
p.E274V
c.821A>T
Surrounding Variants
1 paper
NM_201269.3
p.D277N
c.829G>A
1 paper
NM_201269.3
p.D277V
c.830A>T
1 paper
NM_201269.3
p.F268L
c.804T>G
1 paper
NM_201269.3
p.F268L
c.804T>A
1 paper
NM_201269.3
p.I266_Q267delFs
c.797_801del5
1 paper
NM_201269.3
p.P280A
c.838C>G
1 paper
NM_201269.3
p.F268L
c.802T>C
1 paper
NM_201269.3
p.R291fs
c.871_872fs
1 paper
NM_201269.3
p.R291I
c.872G>T
1 paper
NM_201269.3
p.R291insFs
c.871dupA
1 paper
NM_201269.3
p.R291K
c.872G>A
2 papers
NM_201269.3
p.R291fs
c.871_872fs
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