Varaico: Literature-Extracted Genetic Variants

Gene:IAPP
Variant:p.K34I

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.K34I
c.101A>T
Surrounding Variants
1 paper
NM_000415.3
p.C35C
c.105C>T
8 papers
NM_000415.3
p.V30M
c.88G>A
1 paper
NM_000415.3
p.C40S
c.118T>A
1 paper
NM_000415.3
p.C40insFs
c.118_119insAC
1 paper
NM_000415.3
p.C40S
c.119G>C
1 paper
NM_000415.3
p.S27Splc
c.81-1G>A
1 paper
NM_000415.3
p.S27Splc
c.81-1G>C
1 paper
NM_000415.3
p.T42A
c.124A>G
1 paper
NM_000415.3
p.T42M
c.125C>T
1 paper
NM_000415.3
p.R44H
c.131G>A
1 paper
NM_000415.3
p.N47K
c.141T>A
1 paper
NM_000415.3
p.L49I
c.145T>A
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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."