Varaico: Literature-Extracted Genetic Variants

Gene:RLN1
Variant:p.R162*

RLN1

18 papers

RefSeq Summary

Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In humans there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3, where RLN1 and RLN2 ...

Pfam Domains

Insulinaa 32–185UCSCInsulin/IGF/Relaxin family

Gene Aliases

HGNC Name

relaxin 1

HGNC Previous Name

relaxin 1 (H1)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006911.4
p.R162*
c.484C>T
Surrounding Variants
1 paper
NM_006911.4
p.P145L
c.434C>T
1 paper
NM_006911.4
p.K183fs
c.547_548fs
1 paper
NM_006911.4
p.K183delFs
c.549delT
1 paper
NM_006911.4
p.S138R
c.414T>G
1 paper
NM_006911.4
p.S138R
c.414T>A
1 paper
NM_006911.4
p.S138R
c.412A>C
1 paper
NM_006911.4
p.R134C
c.400C>T
1 paper
NM_006911.4
p.L124H
c.371T>A
1 paper
NM_006911.4
p.V116A
c.347T>C
1 paper
NM_006911.4
p.Q113Q
c.339G>A
1 paper
NM_006911.4
p.S75C
c.224C>G
1 paper
NM_006911.4
p.E71*
c.211G>T
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