Varaico: Literature-Extracted Genetic Variants

Gene:NHSL1
Variant:p.S1017F

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.S1017F
c.3050C>T
Surrounding Variants
1 paper
NM_001144060.2
p.P1025H
c.3074C>A
1 paper
NM_001144060.2
p.P974P
c.2922G>A
1 paper
NM_001144060.2
p.R1062S
c.3186G>T
1 paper
NM_001144060.2
p.R1062S
c.3186G>C
1 paper
NM_001144060.2
p.P1063S
c.3187C>T
1 paper
NM_001144060.2
p.V1081M
c.3241G>A
2 papers
NM_001144060.2
p.P938del1
c.2812_2814delAGG
1 paper
NM_001144060.2
p.P934del1
c.2800_2802delAGG
1 paper
NM_001144060.2
p.S902Y
c.2705C>A
1 paper
NM_001144060.2
p.P881S
c.2641C>T
1 paper
NM_001144060.2
p.S1221I
c.3662G>T
1 paper
NM_001144060.2
p.G811G
c.2433G>A
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