Varaico: Literature-Extracted Genetic Variants

ICA1

51 papers

RefSeq Summary

This gene encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed...

Pfam Domains

Arfaptinaa 22–249UCSCArfaptin-like domain

ICA69aa 261–449UCSCIslet cell autoantigen ICA69, C-terminal domain

ICA69aa 440–483UCSCIslet cell autoantigen ICA69, C-terminal domain

Gene Aliases

HGNC Name

islet cell autoantigen 1

HGNC Alias Symbols

ICAp69; ICA69

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001136020.3

p.S150*

c.449C>G

Surrounding Variants

1 paper

NM_001136020.3

p.S150*

c.449C>A

1 paper

NM_001136020.3

p.N157K

c.471C>A

1 paper

NM_001136020.3

p.T164M

c.491C>T

1 paper

NM_001136020.3

p.L134F

c.402G>T

1 paper

NM_001136020.3

p.L134F

c.402G>C

1 paper

NM_001136020.3

p.A115V

c.344C>T

1 paper

NM_001136020.3

p.R99*

c.295C>T