Varaico: Literature-Extracted Genetic Variants

Gene:NFXL1
Variant:p.C652_V655del4

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.C652_V655del4
c.1954_1964del12
Surrounding Variants
1 paper
NM_001278624.2
p.K681*
c.2041A>T
1 paper
NM_001278624.2
p.K693_A694Splc
c.2080-3C>G
1 paper
NM_001278624.2
p.P696fs
c.2086_2087fs
1 paper
NM_001278624.2
p.P696delFs
c.2087delG
1 paper
NM_001278624.2
p.E697Q
c.2089G>C
1 paper
NM_001278624.2
p.S706C
c.2117C>G
1 paper
NM_001278624.2
p.Q610R
c.1829A>G
1 paper
NM_001278624.2
p.H598L
c.1793A>T
1 paper
NM_001278624.2
p.P596S
c.1786C>T
1 paper
NM_001278624.2
p.R569H
c.1706G>A
1 paper
NM_001278624.2
p.T563A
c.1687A>G
1 paper
NM_001278624.2
p.T559S
c.1676C>G
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