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

1–12 of 37 variants

2 papers

NM_001136020.3

p.L200H

c.599T>A

1 paper

NM_001136020.3

p.D14H

c.40G>C

1 paper

NM_001136020.3

p.Q18H

c.54A>T

1 paper

NM_001136020.3

p.D53D

c.159C>T

1 paper

NM_001136020.3

p.A54T

c.160G>A

1 paper

NM_001136020.3

p.H64Y

c.190C>T

1 paper

NM_001136020.3

p.R68K

c.203G>A

1 paper

NM_001136020.3

p.Q81E

c.241C>G

1 paper

NM_001136020.3

p.R99*

c.295C>T

1 paper

NM_001136020.3

p.A115V

c.344C>T

1 paper

NM_001136020.3

p.L134F

c.402G>T

1 paper

NM_001136020.3

p.L134F

c.402G>C