Varaico: Literature-Extracted Genetic Variants

Gene:NFXL1
Variant:p.C539fs

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.C539fs
c.1615_1616fs
Surrounding Variants
1 paper
NM_001278624.2
p.C539delFs
c.1617delA
1 paper
NM_001278624.2
p.V524A
c.1571T>C
1 paper
NM_001278624.2
p.P519L
c.1556C>T
1 paper
NM_001278624.2
p.T559S
c.1675A>T
1 paper
NM_001278624.2
p.T559S
c.1676C>G
1 paper
NM_001278624.2
p.T563A
c.1687A>G
1 paper
NM_001278624.2
p.R569H
c.1706G>A
1 paper
NM_001278624.2
p.P596S
c.1786C>T
1 paper
NM_001278624.2
p.H598L
c.1793A>T
1 paper
NM_001278624.2
p.Q610R
c.1829A>G
1 paper
NM_001278624.2
p.N496_C497del2
c.1486_1490del6
1 paper
NM_001278624.2
p.C493S
c.1477T>A
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