Varaico: Literature-Extracted Genetic Variants

Gene:ZNF644
Variant:p.C699Y

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
3 papers
NM_201269.3
p.C699Y
c.2096G>A
Surrounding Variants
1 paper
NM_201269.3
p.H706Y
c.2116C>T
1 paper
NM_201269.3
p.H706R
c.2117A>G
2 papers
NM_201269.3
p.K707E
c.2119A>G
1 paper
NM_201269.3
p.T710A
c.2128A>G
1 paper
NM_201269.3
p.I711V
c.2131A>G
4 papers
NM_201269.3
p.R683T
c.2048G>C
3 papers
NM_201269.3
p.R680G
c.2038C>G
1 paper
NM_201269.3
p.Y721C
c.2162A>G
1 paper
NM_201269.3
p.Q670_S675del6
c.2008_2024del18
1 paper
NM_201269.3
p.S675fs
c.2023_2024fs
1 paper
NM_201269.3
p.S675insFs
c.2023_2024ins8
2 papers
NM_201269.3
p.S673G
c.2017A>G
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