Varaico: Literature-Extracted Genetic Variants

Gene:NHSL1
Variant:p.H706Q

NHSL1

67 papers

Pfam Domains

NHSaa 69–228UCSCNHS-like protein
NHSaa 225–1545UCSCNHS-like protein
NHSaa 225–1545UCSCNHS-like protein

Gene Aliases

HGNC Name

NHS like 1

HGNC Previous Symbol

C6orf63

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001144060.2
p.H706Q
c.2118C>G
Surrounding Variants
1 paper
NM_001144060.2
p.H706Q
c.2118C>A
1 paper
NM_001144060.2
p.P724H
c.2171C>A
1 paper
NM_001144060.2
p.R682C
c.2044C>T
2 papers
NM_001144060.2
p.S680S
c.2040C>T
1 paper
NM_001144060.2
p.R735H
c.2204G>A
1 paper
NM_020464.2
p.K674N
c.2022G>T
1 paper
NM_020464.2
p.K674N
c.2022G>C
1 paper
NM_001144060.2
p.Y776S
c.2327A>C
1 paper
NM_001144060.2
p.T777S
c.2329A>T
1 paper
NM_001144060.2
p.N624N
c.1872T>C
1 paper
NM_001144060.2
p.P796insFs
c.2387_2388insC
1 paper
NM_001144060.2
p.G606S
c.1816G>A
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