Varaico: Literature-Extracted Genetic Variants

Gene:NHSL1
Variant:p.A476T

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.A476T
c.1426G>A
Surrounding Variants
1 paper
NM_001144060.2
p.R436W
c.1306C>T
2 papers
NM_001144060.2
p.E423K
c.1267G>A
1 paper
NM_001144060.2
p.T410P
c.1228A>C
1 paper
NM_001144060.2
p.T572A
c.1714A>G
2 papers
NM_001144060.2
p.S598L
c.1793C>T
1 paper
NM_001144060.2
p.G606S
c.1816G>A
1 paper
NM_001144060.2
p.N624N
c.1872T>C
2 papers
NM_001144060.2
p.P313delFs
c.938delG
1 paper
NM_020464.2
p.K674N
c.2022G>T
1 paper
NM_020464.2
p.K674N
c.2022G>C
2 papers
NM_001144060.2
p.S680S
c.2040C>T
1 paper
NM_001144060.2
p.K270K
c.810G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."