Varaico: Literature-Extracted Genetic Variants

SNX19

93 papers

RefSeq Summary

Islet antigen-2 (IA-2) is an autoantigen in type 1 diabetes and plays a role in insulin secretion. IA-2 is found in dense-core secretory vesicles and interacts with the product of this gene, a sorting...

Pfam Domains

PXaa 1–39UCSCPX domain

PXAaa 95–267UCSCPXA domain

PXaa 569–659UCSCPX domain

Gene Aliases

HGNC Name

sorting nexin 19

HGNC Alias Symbols

KIAA0254; CHET8

Papers

RefSeq ID

Protein change

DNA change

1–12 of 85 variants

7 papers

NM_014758.3

p.P480L

c.1439C>T

6 papers

NM_014758.3

p.L878R

c.2633T>G

5 papers

NM_014758.3

p.L618F

c.1854G>T

5 papers

NM_014758.3

p.L618F

c.1854G>C

4 papers

NM_014758.3

p.P92R

c.275C>G

3 papers

NM_014758.3

p.R895W

c.2683C>T

2 papers

NM_014758.3

p.L69L

c.207C>T

2 papers

NM_014758.3

p.G303W

c.907G>T

2 papers

NM_014758.3

p.V361L

c.1081G>C

2 papers

NM_014758.3

p.S407G

c.1219A>G

1 paper

NM_014758.3

p.K2E

c.4A>G

1 paper

NM_014758.3

p.F9L

c.25T>C