Varaico: Literature-Extracted Genetic Variants

Gene:RESP18
Variant:p.E206D

RESP18

33 papers

Pfam Domains

RESP18aa 79–166UCSCRESP18 domain

Gene Aliases

HGNC Name

regulated endocrine specific protein 18

HGNC Previous Names

regulated endocrine-specific protein 18 homolog (rat); regulated endocrine-specific protein 18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001007089.4
p.E206D
c.618A>C
Surrounding Variants
1 paper
NM_001007089.4
p.E206D
c.618A>T
1 paper
NM_001007089.4
p.E206K
c.616G>A
1 paper
NM_001007089.4
p.K205Q
c.613A>C
1 paper
NM_001007089.4
p.Y210fs
c.628_629fs
1 paper
NM_001007089.4
p.I209_Y210delFs
c.627_630del4
1 paper
NM_001007089.4
p.P201P
c.603G>A
1 paper
NM_001007089.4
p.M213L
c.637A>T
1 paper
NM_001007089.4
p.M213L
c.637A>C
1 paper
NM_001007089.4
p.Y188N
c.562T>A
2 papers
NM_001007089.4
p.A175T
c.523G>A
1 paper
NM_001007089.4
p.E170*
c.508G>T
2 papers
NM_001007089.4
p.E170K
c.508G>A
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