Varaico: Literature-Extracted Genetic Variants

Gene:SPIC
Variant:p.E119K

SPIC

16 papers

RefSeq Summary

The protein encoded by this gene regulates the development of red pulp macrophages, which are necessary for iron homeostasis and the recycling of red blood cells. [provided by RefSeq, Aug 2016].

Pfam Domains

Etsaa 110–194UCSCEts-domain

Gene Aliases

HGNC Name

Spi-C transcription factor

HGNC Alias Symbols

MGC40611; SPI-C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152323.3
p.E119K
c.355G>A
Surrounding Variants
2 papers
NM_152323.3
p.P124P
c.372G>A
2 papers
NM_152323.3
p.K109R
c.326A>G
1 paper
NM_152323.3
p.E152K
c.454G>A
1 paper
NM_152323.3
p.R200K
c.599G>A
1 paper
NM_152323.3
p.Y205C
c.614A>G
1 paper
NM_152323.3
p.H241L
c.722A>T
1 paper
NM_152323.3
p.Q87*
c.259C>T
1 paper
NM_152323.3
p.I70_N71Splc
c.210+1G>A
1 paper
NM_152323.3
p.H43R
c.128A>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."