Varaico: Literature-Extracted Genetic Variants

Gene:BTLA

BTLA

63 papers

RefSeq Summary

This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune r...

Gene Aliases

HGNC Name

B and T lymphocyte associated

HGNC Alias Symbols

BTLA1; CD272

Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
5 papers
NM_181780.4
p.P267L
c.800C>T
3 papers
NM_181780.4
p.R157S
c.469C>A
3 papers
NM_181780.4
p.N197T
c.590A>C
2 papers
NM_181780.4
p.Y226F
c.677A>T
2 papers
NM_181780.4
p.Y243F
c.728A>T
2 papers
NM_181780.4
p.Y257F
c.770A>T
2 papers
NM_181780.4
p.Y282F
c.845A>T
1 paper
NM_181780.4
p.M1L
c.1A>T
1 paper
NM_181780.4
p.M1L
c.1A>C
1 paper
NM_181780.4
p.M1T
c.2T>C
1 paper
NM_181780.4
p.A6V
c.17C>T
1 paper
NM_181780.4
p.V16I
c.46G>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."