Varaico: Literature-Extracted Genetic Variants

Gene:NCKAP1L
Variant:p.R175H

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.R175H
c.524G>A
Surrounding Variants
1 paper
NM_005337.5
p.P171S
c.511C>T
1 paper
NM_005337.5
p.G195_P196insFs
c.585_586insG
1 paper
NM_005337.5
p.G203A
c.608G>C
1 paper
NM_005337.5
p.A219T
c.655G>A
1 paper
NM_005337.5
p.R223C
c.667C>T
1 paper
NM_005337.5
p.L228R
c.683T>G
1 paper
NM_005337.5
p.N233T
c.698A>C
1 paper
NM_005337.5
p.N239K
c.717C>G
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
1 paper
NM_005337.5
p.R152Q
c.455G>A
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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."