Varaico: Literature-Extracted Genetic Variants

Gene:HAVCR1
Variant:p.T75S

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.T75S
c.223A>T
Surrounding Variants
1 paper
NM_001173393.3
p.T75A
c.223A>G
1 paper
NM_001173393.3
p.T75R
c.224C>G
1 paper
NM_001173393.3
p.D74fs
c.220_221fs
1 paper
NM_001173393.3
p.K73fs
c.217_218fs
1 paper
NM_001173393.3
p.K73delFs
c.217delT
1 paper
NM_001173393.3
p.K73Q
c.217A>C
1 paper
NM_001173393.3
p.Y77F
c.230A>T
1 paper
NM_001173393.3
p.R72L
c.215G>T
1 paper
NM_001173393.3
p.R72Q
c.215G>A
4 papers
NM_001173393.3
p.K78E
c.232A>G
1 paper
NM_001173393.3
p.K78M
c.233A>T
1 paper
NM_001173393.3
p.Y71F
c.212A>T
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