Varaico: Literature-Extracted Genetic Variants

Gene:SPRING1

SPRING1

20 papers

Pfam Domains

SPRING1aa 70–195UCSCSREBP regulating gene protein

Gene Aliases

HGNC Name

SREBF pathway regulator in golgi 1

HGNC Previous Symbol

C12orf49

Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
3 papers
NM_024738.4
p.S33N
c.98G>A
3 papers
NM_024738.4
p.Q55R
c.164A>G
2 papers
NM_024738.4
p.R187Q
c.560G>A
1 paper
NM_024738.4
p.M1L
c.1A>T
1 paper
NM_024738.4
p.M1V
c.1A>G
1 paper
NM_024738.4
p.L31F
c.91C>T
1 paper
NM_024738.4
p.N46D
c.136A>G
1 paper
NM_024738.4
p.N54I
c.161A>T
1 paper
NM_024738.4
p.R70C
c.208C>T
1 paper
NM_024738.4
p.L89L
c.267C>T
1 paper
NM_024738.4
p.E94K
c.280G>A
1 paper
NM_024738.4
p.L99V
c.295C>G
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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."