Varaico: Literature-Extracted Genetic Variants

Gene:SPRING1
Variant:p.R187W

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
Selected Variant
1 paper
NM_024738.4
p.R187W
c.559C>T
Surrounding Variants
2 papers
NM_024738.4
p.R187Q
c.560G>A
1 paper
NM_024738.4
p.V180A
c.539T>C
1 paper
NM_024738.4
p.E129K
c.385G>A
1 paper
NM_024738.4
p.Y114H
c.340T>C
1 paper
NM_024738.4
p.T111T
c.333G>A
1 paper
NM_024738.4
p.L99V
c.295C>G
1 paper
NM_024738.4
p.E94K
c.280G>A
1 paper
NM_024738.4
p.L89L
c.267C>T
1 paper
NM_024738.4
p.R70C
c.208C>T
3 papers
NM_024738.4
p.Q55R
c.164A>G
1 paper
NM_024738.4
p.N54I
c.161A>T
1 paper
NM_024738.4
p.N46D
c.136A>G
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