Varaico: Literature-Extracted Genetic Variants

Gene:NCKAP1L
Variant:p.R546H

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.R546H
c.1637G>A
Surrounding Variants
2 papers
NM_005337.5
p.R546C
c.1636C>T
1 paper
NM_005337.5
p.F575F
c.1725T>C
1 paper
NM_005337.5
p.M582_C583insG
c.1744_1748ins3
1 paper
NM_005337.5
p.E585_E586insG
c.1753_1757ins3
1 paper
NM_005337.5
p.H593P
c.1778A>C
1 paper
NM_005337.5
p.H596H
c.1788C>T
1 paper
NM_005337.5
p.A606A
c.1818C>T
1 paper
NM_005337.5
p.V613I
c.1837G>A
2 papers
NM_005337.5
p.V519L
c.1555G>C
1 paper
NM_005337.5
p.H506Q
c.1518T>A
1 paper
NM_005337.5
p.H506Q
c.1518T>G
1 paper
NM_005337.5
p.V498M
c.1492G>A
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