Varaico: Literature-Extracted Genetic Variants

Gene:CD4

CD4

453 papers

RefSeq Summary

This gene encodes the CD4 membrane glycoprotein of T lymphocytes. The CD4 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presen...

Pfam Domains

igaa 27–122UCSCImmunoglobulin domain
C2-setaa 125–203UCSCImmunoglobulin C2-set domain
CD4-extracelaa 206–316UCSCCD4, extracellular
C2-setaa 317–390UCSCImmunoglobulin C2-set domain
Tcell_CD4_Caa 402–449UCSCT cell CD4 receptor C terminal region

Gene Aliases

HGNC Name

CD4 molecule

HGNC Alias Symbols

T4; Leu-3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 234 variants
7 papers
NM_000616.5
p.R265W
c.793C>T
5 papers
NM_000616.5
p.Q24L
c.71A>T
4 papers
NM_000616.5
p.Q290*
c.868C>T
4 papers
NM_000616.5
p.S375W
c.1124C>G
4 papers
NM_000616.5
p.R426_R427Splc
c.1278+1G>A
3 papers
NM_000616.5
p.V386Splc
c.1157-1G>A
3 papers
NM_000616.5
p.H449Splc
c.1346+2T>C
2 papers
NM_000616.5
p.M1V
c.1A>G
2 papers
NM_000616.5
p.M1I
c.3G>A
2 papers
NM_000616.5
p.L10V
c.28T>G
2 papers
NM_000616.5
p.K33R
c.98A>G
2 papers
NM_000616.5
p.S56S
c.168C>A
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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."