Varaico: Literature-Extracted Genetic Variants

Gene:ZNF644
Variant:p.L991F

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.L991F
c.2973A>T
Surrounding Variants
1 paper
NM_201269.3
p.L991F
c.2973A>C
1 paper
NM_201269.3
p.K1009T
c.3026A>C
1 paper
NM_201269.3
p.Q1011E
c.3031C>G
1 paper
NM_201269.3
p.F1013I
c.3037T>A
1 paper
NM_201269.3
p.C965_Y967del3
c.2893_2900del9
1 paper
NM_201269.3
p.S964L
c.2891C>T
1 paper
NM_201269.3
p.K962N
c.2886G>T
1 paper
NM_201269.3
p.K962N
c.2886G>C
1 paper
NM_201269.3
p.R1024*
c.3070C>T
2 papers
NM_201269.3
p.T956S
c.2867C>G
2 papers
NM_201269.3
p.T956S
c.2866A>T
1 paper
NM_201269.3
p.S951_H954delFs
c.2852_2861del10
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."