Varaico: Literature-Extracted Genetic Variants

Gene:HAVCR1
Variant:p.L305S

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.L305S
c.914T>C
Surrounding Variants
1 paper
NM_001173393.3
p.A309A
c.927T>C
1 paper
NM_001173393.3
p.C301R
c.901T>C
1 paper
NM_001173393.3
p.L311M
c.931T>A
1 paper
NM_001173393.3
p.G312V
c.935G>T
1 paper
NM_001173393.3
p.K294R
c.881A>G
1 paper
NM_001173393.3
p.K294Q
c.880A>C
1 paper
NM_001173393.3
p.T292T
c.876C>T
1 paper
NM_001173393.3
p.E284A
c.851A>C
1 paper
NM_001173393.3
p.E284Q
c.850G>C
1 paper
NM_001173393.3
p.L283L
c.847C>T
1 paper
NM_001173393.3
p.Q280K
c.838C>A
1 paper
NM_001173393.3
p.K322insFs
c.965_966insC
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