Varaico: Literature-Extracted Genetic Variants

Gene:IAPP

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
1–12 of 69 variants
8 papers
NM_000415.3
p.V30M
c.88G>A
3 papers
NM_000415.3
p.Q7Q
c.21A>G
2 papers
NM_000415.3
p.K5N
c.15G>T
2 papers
NM_000415.3
p.N18I
c.53A>T
2 papers
NM_000415.3
p.H19insFs
c.56dupA
2 papers
NM_000415.3
p.S53G
c.157A>G
2 papers
NM_000415.3
p.N55D
c.163A>G
2 papers
NM_000415.3
p.N55S
c.164A>G
2 papers
NM_000415.3
p.L60R
c.179T>G
2 papers
NM_000415.3
p.E77A
c.230A>C
1 paper
NM_000415.3
p.M1T
c.2T>C
1 paper
NM_000415.3
p.M1I
c.3G>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."