Varaico: Literature-Extracted Genetic Variants

Gene:NCKAP1L
Variant:p.L407P

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.L407P
c.1220T>C
Surrounding Variants
1 paper
NM_005337.5
p.I404T
c.1211T>C
1 paper
NM_005337.5
p.R415K
c.1244G>A
1 paper
NM_005337.5
p.L417L
c.1249C>T
1 paper
NM_005337.5
p.V418_R419delins
c.1254_1255delinsTT
2 papers
NM_005337.5
p.R419*
c.1255C>T
1 paper
NM_005337.5
p.V440E
c.1319T>A
1 paper
NM_005337.5
p.L441F
c.1321C>T
2 papers
NM_005337.5
p.S402L
c.1205C>T
1 paper
NM_005337.5
p.T393I
c.1178C>T
1 paper
NM_005337.5
p.R385H
c.1154G>A
2 papers
NM_005337.5
p.R377H
c.1130G>A
1 paper
NM_005337.5
p.M371K
c.1112T>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."