Varaico: Literature-Extracted Genetic Variants

Gene:INSL5
Variant:p.E72A

INSL5

34 papers

RefSeq Summary

The protein encoded by this gene contains a classical signature of the insulin superfamily and is highly similar to relaxin 3 (RLN3/INSL7). [provided by RefSeq, Jul 2008].

Pfam Domains

Insulinaa 26–135UCSCInsulin/IGF/Relaxin family

Gene Aliases

HGNC Name

insulin like 5

HGNC Previous Name

insulin-like 5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005478.6
p.E72A
c.215A>C
Surrounding Variants
1 paper
NM_005478.6
p.R71_E72delFs
c.213_214delCA
1 paper
NM_005478.6
p.E72fs
c.214_215fs
1 paper
NM_005478.6
p.H69Q
c.207T>G
1 paper
NM_005478.6
p.H69Q
c.207T>A
1 paper
NM_005478.6
p.H69fs
c.205_206fs
1 paper
NM_005478.6
p.P68delFs
c.204delT
1 paper
NM_005478.6
p.P68Q
c.203C>A
1 paper
NM_005478.6
p.F65delFs
c.194delA
1 paper
NM_005478.6
p.P83P
c.249G>A
1 paper
NM_005478.6
p.K84*
c.250A>T
1 paper
NM_005478.6
p.Q97H
c.291G>T
1 paper
NM_005478.6
p.Q97H
c.291G>C
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