Varaico: Literature-Extracted Genetic Variants

Gene:NFXL1
Variant:p.K813E

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.K813E
c.2437A>G
Surrounding Variants
1 paper
NM_001278624.2
p.R815C
c.2443C>T
1 paper
NM_001278624.2
p.R815G
c.2443C>G
2 papers
NM_001278624.2
p.R815H
c.2444G>A
1 paper
NM_001278624.2
p.E808G
c.2423A>G
1 paper
NM_001278624.2
p.I805T
c.2414T>C
1 paper
NM_001278624.2
p.R867H
c.2600G>A
1 paper
NM_001278624.2
p.R868R
c.2604G>A
1 paper
NM_001278624.2
p.Y890del1
c.2668_2669delATA
1 paper
NM_001278624.2
p.F902I
c.2704T>A
1 paper
NM_001278624.2
p.N911I
c.2732A>T
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