Varaico: Literature-Extracted Genetic Variants

Gene:NCKAP1L

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
1–12 of 140 variants
3 papers
NM_005337.5
p.P359L
c.1076C>T
3 papers
NM_005337.5
p.M371V
c.1111A>G
3 papers
NM_005337.5
p.K954N
c.2862G>C
3 papers
NM_005337.5
p.K954N
c.2862G>T
2 papers
NM_005337.5
p.R129W
c.385C>T
2 papers
NM_005337.5
p.V141F
c.421G>T
2 papers
NM_005337.5
p.M157I
c.471G>A
2 papers
NM_005337.5
p.M157I
c.471G>C
2 papers
NM_005337.5
p.M157I
c.471G>T
2 papers
NM_005337.5
p.R258L
c.773G>T
2 papers
NM_005337.5
p.I294T
c.881T>C
2 papers
NM_005337.5
p.R340W
c.1018C>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."