Varaico: Literature-Extracted Genetic Variants

Gene:CD276
Variant:p.E248G

CD276

178 papers

RefSeq Summary

The protein encoded by this gene belongs to the immunoglobulin superfamily, and thought to participate in the regulation of T-cell-mediated immune response. Studies show that while the transcript of t...

Pfam Domains

V-setaa 32–138UCSCImmunoglobulin V-set domain
C2-set_3aa 143–232UCSCButyrophilin subfamily 3 member A2-like, Ig-C domain
C2-set_3aa 143–232UCSCButyrophilin subfamily 3 member A2-like, Ig-C domain
V-setaa 250–356UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

CD276 molecule

HGNC Alias Symbols

B7-H3; B7H3; B7RP-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001024736.2
p.E248G
c.743A>G
Surrounding Variants
3 papers
NM_001024736.2
p.R267H
c.800G>A
1 paper
NM_001024736.2
p.C268C
c.804C>T
3 papers
NM_001024736.2
p.A279T
c.835G>A
1 paper
NM_001024736.2
p.T288K
c.863C>A
1 paper
NM_001024736.2
p.T288T
c.864A>G
1 paper
NM_001024736.2
p.L293Q
c.878T>A
1 paper
NM_001024736.2
p.Q303fs
c.907_908fs
1 paper
NM_001024736.2
p.Q303insFs
c.909dupG
1 paper
NM_001024736.2
p.S305fs
c.913_914fs
1 paper
NM_001024736.2
p.S305T
c.914G>C
2 papers
NM_001024736.2
p.A306T
c.916G>A
1 paper
NM_001024736.2
p.R310P
c.929G>C
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