Varaico: Literature-Extracted Genetic Variants

Gene:GFI1
Variant:p.L29S

GFI1

148 papers

RefSeq Summary

This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It ...

Pfam Domains

zf-C2H2aa 255–278UCSCZinc finger, C2H2 type
zf-C2H2aa 284–306UCSCZinc finger, C2H2 type
zf-C2H2aa 312–334UCSCZinc finger, C2H2 type
zf-C2H2aa 340–362UCSCZinc finger, C2H2 type
zf-C2H2aa 368–390UCSCZinc finger, C2H2 type
zf-C2H2aa 396–419UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

growth factor independent 1 transcriptional repressor

HGNC Previous Symbol

ZNF163

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005263.5
p.L29S
c.86T>C
Surrounding Variants
1 paper
NM_005263.5
p.R28H
c.83G>A
1 paper
NM_005263.5
p.L27H
c.80T>A
2 papers
NM_005263.5
p.K10_P23delFs
c.28_68del41
9 papers
NM_005263.5
p.S36N
c.107G>A
1 paper
NM_005263.5
p.G22E
c.65G>A
1 paper
NM_005263.5
p.R37Q
c.110G>A
1 paper
NM_005263.5
p.R37fs
c.109_110fs
1 paper
NM_005263.5
p.A38T
c.112G>A
1 paper
NM_005263.5
p.Q17E
c.49C>G
2 papers
NM_005263.5
p.K10*
c.28A>T
2 papers
NM_005263.5
p.P2insFs
c.5dupC
1 paper
NM_005263.5
p.P2insFs
c.5_6ins4
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