Varaico: Literature-Extracted Genetic Variants

Gene:NFXL1
Variant:p.R457*

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.R457*
c.1369C>T
Surrounding Variants
1 paper
NM_001278624.2
p.T468S
c.1403C>G
1 paper
NM_001278624.2
p.Q477L
c.1430A>T
1 paper
NM_001278624.2
p.C441Y
c.1322G>A
1 paper
NM_001278624.2
p.P437S
c.1309C>T
1 paper
NM_001278624.2
p.H434Y
c.1300C>T
1 paper
NM_001278624.2
p.R432H
c.1295G>A
2 papers
NM_001278624.2
p.R432C
c.1294C>T
1 paper
NM_001278624.2
p.G425R
c.1273G>C
1 paper
NM_001278624.2
p.G425R
c.1273G>A
1 paper
NM_001278624.2
p.E409E
c.1227A>G
1 paper
NM_001278624.2
p.C493S
c.1477T>A
1 paper
NM_001278624.2
p.N496_C497del2
c.1486_1490del6
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