Varaico: Literature-Extracted Genetic Variants

Gene:HAVCR2
Variant:p.P247H

HAVCR2

148 papers

RefSeq Summary

The protein encoded by this gene belongs to the immunoglobulin superfamily, and TIM family of proteins. CD4-positive T helper lymphocytes can be divided into types 1 (Th1) and 2 (Th2) on the basis of ...

Pfam Domains

V-setaa 21–130UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

hepatitis A virus cellular receptor 2

HGNC Alias Symbols

Tim-3; TIM3; FLJ14428; TIMD3; CD366

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032782.5
p.P247H
c.740C>A
Surrounding Variants
1 paper
NM_032782.5
p.P247S
c.739C>T
1 paper
NM_032782.5
p.L239V
c.715C>G
1 paper
NM_032782.5
p.S238Splc
c.714-2A>C
1 paper
NM_032782.5
p.G257V
c.770G>T
3 papers
NM_032782.5
p.R259H
c.776G>A
1 paper
NM_032782.5
p.I264V
c.790A>G
1 paper
NM_032782.5
p.I267V
c.799A>G
1 paper
NM_032782.5
p.N270insFs
c.810dupC
1 paper
NM_032782.5
p.V271I
c.811G>A
1 paper
NM_032782.5
p.P277L
c.830C>T
1 paper
NM_032782.5
p.P301S
c.901C>T
1 paper
NM_032782.5
p.P301A
c.901C>G
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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."