Varaico: Literature-Extracted Genetic Variants

Gene:NCKAP1L
Variant:p.H506Q

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.H506Q
c.1518T>G
Surrounding Variants
1 paper
NM_005337.5
p.H506Q
c.1518T>A
1 paper
NM_005337.5
p.V498M
c.1492G>A
2 papers
NM_005337.5
p.V519L
c.1555G>C
1 paper
NM_005337.5
p.W489*
c.1467G>A
1 paper
NM_005337.5
p.K472Q
c.1414A>C
1 paper
NM_005337.5
p.P452S
c.1354C>T
1 paper
NM_005337.5
p.V450M
c.1348G>A
1 paper
NM_005337.5
p.L441F
c.1321C>T
1 paper
NM_005337.5
p.V440E
c.1319T>A
2 papers
NM_005337.5
p.R419*
c.1255C>T
1 paper
NM_005337.5
p.V418_R419delins
c.1254_1255delinsTT
1 paper
NM_005337.5
p.L417L
c.1249C>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."