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

2 papers

NM_001136020.3

p.L200H

c.599T>A

Surrounding Variants

1 paper

NM_001136020.3

p.R199H

c.596G>A

1 paper

NM_001136020.3

p.N204fs

c.610_611fs

1 paper

NM_001136020.3

p.N204fs

c.610_611fs

1 paper

NM_001136020.3

p.N204delFs

c.611delT

1 paper

NM_001136020.3

p.M210T

c.629T>C

1 paper

NM_001136020.3

p.V216L

c.646G>T

1 paper

NM_001136020.3

p.D217Y

c.649G>T

1 paper

NM_001136020.3

p.H229D

c.685C>G

1 paper

NM_001136020.3

p.Q235_T236Splc

c.705+90G>T

1 paper

NM_001136020.3

p.W242L

c.725G>T

1 paper

NM_001136020.3

p.W242S

c.725G>C

1 paper

NM_001136020.3

p.H253R

c.758A>G