Varaico: Literature-Extracted Genetic Variants

Gene:CD93

CD93

67 papers

RefSeq Summary

The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be...

Pfam Domains

Lectin_Caa 42–182UCSCLectin C-type domain
cEGFaa 325–348UCSCComplement Clr-like EGF-like
cEGFaa 406–430UCSCComplement Clr-like EGF-like

Gene Aliases

HGNC Name

CD93 molecule

HGNC Previous Symbols

MXRA4; C1QR1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
4 papers
NM_012072.4
p.V117G
c.350T>G
2 papers
NM_012072.4
p.C104S
c.310T>A
2 papers
NM_012072.4
p.C104S
c.311G>C
2 papers
NM_012072.4
p.W116G
c.346T>G
2 papers
NM_012072.4
p.C136S
c.406T>A
2 papers
NM_012072.4
p.C136S
c.407G>C
2 papers
NM_012072.4
p.P541S
c.1621C>T
2 papers
NM_012072.4
p.V543I
c.1627G>A
1 paper
NM_012072.4
p.A2insFs
c.4_5insT
1 paper
NM_012072.4
p.M5delFs
c.13_14delAT
1 paper
NM_012072.4
p.L13_L14ins0
c.39_41dupGCT
1 paper
NM_012072.4
p.L13_L14del1
c.39_41delAGC
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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."