Varaico: Literature-Extracted Genetic Variants

Gene:HAVCR1
Variant:p.G50insFs

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.G50insFs
c.148_149insAG
Surrounding Variants
1 paper
NM_001173393.3
p.G50G
c.150C>T
2 papers
NM_001173393.3
p.G50fs
c.148_149fs
1 paper
NM_001173393.3
p.S51L
c.152C>T
1 paper
NM_001173393.3
p.S51delFs
c.151delA
1 paper
NM_001173393.3
p.N48H
c.142A>C
1 paper
NM_001173393.3
p.W47R
c.139T>C
1 paper
NM_001173393.3
p.W47R
c.139T>A
1 paper
NM_001173393.3
p.C46W
c.138C>G
3 papers
NM_001173393.3
p.S53_F55del0
c.158_163del6
1 paper
NM_001173393.3
p.S44S
c.132C>A
1 paper
NM_001173393.3
p.S44A
c.130T>G
1 paper
NM_001173393.3
p.S44P
c.130T>C
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