Varaico: Literature-Extracted Genetic Variants

Gene:HAVCR1
Variant:p.E347K

HAVCR1

289 papers

RefSeq Summary

The protein encoded by this gene is a membrane receptor for both human hepatitis A virus (HHAV) and TIMD4. The encoded protein may be involved in the moderation of asthma and allergic diseases. The re...

Pfam Domains

V-setaa 20–124UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

hepatitis A virus cellular receptor 1

HGNC Alias Symbols

HAVCR-1; TIM-1; TIM1; TIMD1; CD365; KIM1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001173393.3
p.E347K
c.1039G>A
Surrounding Variants
2 papers
NM_001173393.3
p.E347Q
c.1039G>C
1 paper
NM_001173393.3
p.Q341insFs
c.1022dupA
1 paper
NM_001173393.3
p.D352A
c.1055A>C
1 paper
NM_001173393.3
p.E357K
c.1069G>A
1 paper
NM_001173393.3
p.L360_Y361insT
c.1078_1082ins3
1 paper
NM_001173393.3
p.D364H
c.1090G>C
1 paper
NM_001173393.3
p.D364N
c.1090G>A
3 papers
NM_001173393.3
p.S329Splc
c.986+9G>A
1 paper
NM_001173393.3
p.L328L
c.982C>T
1 paper
NM_001173393.3
p.K322insFs
c.965_966insC
1 paper
NM_001173393.3
p.G312V
c.935G>T
1 paper
NM_001173393.3
p.L311M
c.931T>A
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