Varaico: Literature-Extracted Genetic Variants

Gene:IAPP
Variant:p.L49I

IAPP

273 papers

RefSeq Summary

This gene encodes a member of the calcitonin family of peptide hormones. This hormone is released from pancreatic beta cells following food intake to regulate blood glucose levels and act as a satiati...

Pfam Domains

Calc_CGRP_IAPPaa 26–74UCSCCalcitonin / CGRP / IAPP family

Gene Aliases

HGNC Name

islet amyloid polypeptide

HGNC Alias Symbols

AMYLIN; IAP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000415.3
p.L49I
c.145T>A
Surrounding Variants
1 paper
NM_000415.3
p.N47K
c.141T>A
2 papers
NM_000415.3
p.S53G
c.157A>G
1 paper
NM_000415.3
p.R44H
c.131G>A
1 paper
NM_000415.3
p.N54D
c.160A>G
2 papers
NM_000415.3
p.N55D
c.163A>G
2 papers
NM_000415.3
p.N55S
c.164A>G
1 paper
NM_000415.3
p.T42M
c.125C>T
1 paper
NM_000415.3
p.T42A
c.124A>G
1 paper
NM_000415.3
p.F56L
c.166T>C
1 paper
NM_000415.3
p.F56S
c.167T>C
1 paper
NM_000415.3
p.G57S
c.169G>A
1 paper
NM_000415.3
p.C40S
c.119G>C
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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."