Varaico: Literature-Extracted Genetic Variants

Gene:NCKAP1L
Variant:p.W259C

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.W259C
c.777G>C
Surrounding Variants
1 paper
NM_005337.5
p.W259*
c.777G>A
1 paper
NM_005337.5
p.W259C
c.777G>T
1 paper
NM_005337.5
p.W259*
c.776G>A
2 papers
NM_005337.5
p.R258L
c.773G>T
1 paper
NM_005337.5
p.E257K
c.769G>A
1 paper
NM_005337.5
p.A247D
c.740C>A
1 paper
NM_005337.5
p.M246T
c.737T>C
1 paper
NM_005337.5
p.I262Splc
c.785-1G>A
1 paper
NM_005337.5
p.H268L
c.803A>T
2 papers
NM_005337.5
p.I294T
c.881T>C
1 paper
NM_005337.5
p.R295H
c.884G>A
1 paper
NM_005337.5
p.V298G
c.893T>G
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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."