Varaico: Literature-Extracted Genetic Variants

ERGIC1

29 papers

RefSeq Summary

This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase thei...

Pfam Domains

ERGIC_Naa 5–98UCSCEndoplasmic Reticulum-Golgi Intermediate Compartment (ERGIC)

COPIIcoated_ERVaa 97–271UCSCEndoplasmic reticulum vesicle transporter

Gene Aliases

HGNC Name

endoplasmic reticulum-golgi intermediate compartment 1

HGNC Alias Symbols

ERGIC32; ERGIC-32; KIAA1181; NET24

Papers

RefSeq ID

Protein change

DNA change

1–12 of 21 variants

3 papers

NM_001031711.3

p.V98E

c.293T>A

2 papers

NM_001031711.3

p.E97K

c.289G>A

2 papers

NM_001031711.3

p.G261D

c.782G>A

1 paper

NM_001031711.3

p.R7Splc

c.21-21513T>G

1 paper

NM_001031711.3

p.R12R

c.36G>A

1 paper

NM_001031711.3

p.S29P

c.85T>C

1 paper

NM_001031711.3

p.T49T

c.147G>A

1 paper

NM_001031711.3

p.L56F

c.166C>T

1 paper

NM_001031711.3

p.H81L

c.242A>T

1 paper

NM_001031711.3

p.I107del1

c.319_321delATC

1 paper

NM_001031711.3

p.V132M

c.394G>A

1 paper

NM_001031711.3

p.T147M

c.440C>T