Varaico: Literature-Extracted Genetic Variants

Gene:NCKAP1L
Variant:p.K954N

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
3 papers
NM_005337.5
p.K954N
c.2862G>C
Surrounding Variants
3 papers
NM_005337.5
p.K954N
c.2862G>T
2 papers
NM_005337.5
p.K954_V955Splc
c.2862+1G>A
1 paper
NM_005337.5
p.K944delFs
c.2832delG
1 paper
NM_005337.5
p.I940T
c.2819T>C
1 paper
NM_005337.5
p.P939H
c.2816C>A
1 paper
NM_005337.5
p.R907H
c.2720G>A
1 paper
NM_005337.5
p.P896L
c.2687C>T
1 paper
NM_005337.5
p.G845G
c.2535C>T
1 paper
NM_005337.5
p.M837I
c.2511G>T
1 paper
NM_005337.5
p.A966G
c.2897C>G
1 paper
NM_005337.5
p.L983M
c.2947C>A
1 paper
NM_005337.5
p.N825N
c.2475C>T
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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."