Varaico: Literature-Extracted Genetic Variants

Gene:NFXL1
Variant:p.A294E

NFXL1

54 papers

Pfam Domains

zf-NF-X1aa 265–282UCSCNF-X1 type zinc finger
zf-NF-X1aa 318–336UCSCNF-X1 type zinc finger
zf-NF-X1aa 371–389UCSCNF-X1 type zinc finger
zf-NF-X1aa 424–442UCSCNF-X1 type zinc finger
zf-NF-X1aa 476–494UCSCNF-X1 type zinc finger
zf-NF-X1aa 497–521UCSCNF-X1 type zinc finger

Gene Aliases

HGNC Name

nuclear transcription factor, X-box binding like 1

HGNC Alias Symbol

HOZFP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001278624.2
p.A294E
c.881C>A
Surrounding Variants
1 paper
NM_001278624.2
p.I297delFs
c.890delA
1 paper
NM_001278624.2
p.A303T
c.907G>A
1 paper
NM_001278624.2
p.A303A
c.909C>T
1 paper
NM_001278624.2
p.K348insFs
c.1044dupA
1 paper
NM_001278624.2
p.W359C
c.1077G>T
1 paper
NM_001278624.2
p.W359C
c.1077G>C
1 paper
NM_001278624.2
p.P275L
c.824C>T
8 papers
NM_001278624.2
p.P246L
c.737C>T
1 paper
NM_001278624.2
p.Y232*
c.696C>G
1 paper
NM_001278624.2
p.Y232*
c.696C>A
1 paper
NM_001278624.2
p.V382I
c.1144G>A
1 paper
NM_001278624.2
p.E409E
c.1227A>G
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