Varaico: Literature-Extracted Genetic Variants

Gene:NCKAP1L
Variant:p.A966G

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.A966G
c.2897C>G
Surrounding Variants
1 paper
NM_005337.5
p.L983M
c.2947C>A
1 paper
NM_005337.5
p.V1006F
c.3016G>T
1 paper
NM_005337.5
p.L1008F
c.3022C>T
1 paper
NM_005337.5
p.D1014delFs
c.3042delC
1 paper
NM_005337.5
p.P1015fs
c.3043_3044fs
1 paper
NM_005337.5
p.S1016C
c.3047C>G
1 paper
NM_005337.5
p.Y1019D
c.3055T>G
1 paper
NM_005337.5
p.C1032G
c.3094T>G
1 paper
NM_005337.5
p.A1036D
c.3107C>A
1 paper
NM_005337.5
p.F1045L
c.3133T>C
1 paper
NM_005337.5
p.F1045L
c.3135C>A
1 paper
NM_005337.5
p.F1045L
c.3135C>G
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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."