Varaico: Literature-Extracted Genetic Variants

Gene:NCKAP1L
Variant:p.R767C

NCKAP1L

103 papers

RefSeq Summary

This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells...

Pfam Domains

Nckap1aa 7–1123UCSCNck-associated protein 1

Gene Aliases

HGNC Name

NCK associated protein 1 like

HGNC Previous Symbol

HEM1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005337.5
p.R767C
c.2299C>T
Surrounding Variants
1 paper
NM_005337.5
p.Q772H
c.2316G>C
1 paper
NM_005337.5
p.Q772H
c.2316G>T
1 paper
NM_005337.5
p.L758fs
c.2272_2273fs
2 papers
NM_005337.5
p.V735I
c.2203G>A
1 paper
NM_005337.5
p.T730M
c.2189C>T
1 paper
NM_005337.5
p.I721T
c.2162T>C
1 paper
NM_005337.5
p.A801T
c.2401G>A
1 paper
NM_005337.5
p.Q813*
c.2437C>T
1 paper
NM_005337.5
p.V816I
c.2446G>A
1 paper
NM_005337.5
p.N825N
c.2475C>T
1 paper
NM_005337.5
p.S711I
c.2132G>T
1 paper
NM_005337.5
p.Y694delFs
c.2081_2082delAC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."