Varaico: Literature-Extracted Genetic Variants

Gene:CD93
Variant:p.N268H

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
Selected Variant
1 paper
NM_012072.4
p.N268H
c.802A>C
Surrounding Variants
1 paper
NM_012072.4
p.G278A
c.833G>C
1 paper
NM_012072.4
p.D280fs
c.838_839fs
1 paper
NM_012072.4
p.G251S
c.751G>A
1 paper
NM_012072.4
p.D249A
c.746A>C
1 paper
NM_012072.4
p.R288G
c.862C>G
1 paper
NM_012072.4
p.E242A
c.725A>C
1 paper
NM_012072.4
p.E242K
c.724G>A
1 paper
NM_012072.4
p.V298E
c.893T>A
1 paper
NM_012072.4
p.C306fs
c.916_917fs
1 paper
NM_012072.4
p.G314E
c.941G>A
1 paper
NM_012072.4
p.A220V
c.659C>T
1 paper
NM_012072.4
p.P216L
c.647C>T
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