Varaico: Literature-Extracted Genetic Variants

Gene:NCKAP1L
Variant:p.M157I

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
2 papers
NM_005337.5
p.M157I
c.471G>C
Surrounding Variants
2 papers
NM_005337.5
p.M157I
c.471G>A
2 papers
NM_005337.5
p.M157I
c.471G>T
1 paper
NM_005337.5
p.R152Q
c.455G>A
1 paper
NM_005337.5
p.R147W
c.439C>T
1 paper
NM_005337.5
p.I142V
c.424A>G
2 papers
NM_005337.5
p.V141F
c.421G>T
1 paper
NM_005337.5
p.R129L
c.386G>T
2 papers
NM_005337.5
p.R129W
c.385C>T
1 paper
NM_005337.5
p.I121_N122Splc
c.363+1G>A
1 paper
NM_005337.5
p.L109L
c.327C>G
1 paper
NM_005337.5
p.D103N
c.307G>A
1 paper
NM_005337.5
p.P171S
c.511C>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."