Varaico: Literature-Extracted Genetic Variants

Gene:NHSL2
Variant:p.I819N

NHSL2

56 papers

Pfam Domains

NHSaa 100–324UCSCNHS-like protein
NHSaa 492–614UCSCNHS-like protein
NHSaa 610–1225UCSCNHS-like protein

Gene Aliases

HGNC Name

NHS like 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001013627.3
p.I819N
c.2456T>A
Surrounding Variants
1 paper
NM_001013627.3
p.N816_I819delFs
c.2448_2455del8
1 paper
NM_001013627.3
p.R832C
c.2494C>T
1 paper
NM_001013627.3
p.V836V
c.2508C>G
1 paper
NM_001013627.3
p.E840Q
c.2518G>C
1 paper
NM_001013627.3
p.R798W
c.2392C>T
1 paper
NM_001013627.3
p.D843V
c.2528A>T
1 paper
NM_001013627.3
p.L781L
c.2341C>T
1 paper
NM_001013627.3
p.E864Q
c.2590G>C
1 paper
NM_001013627.3
p.R879Q
c.2636G>A
2 papers
NM_001013627.3
p.T758M
c.2273C>T
1 paper
NM_001013627.3
p.S719L
c.2156C>T
1 paper
NM_001013627.3
p.R925W
c.2773C>T
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