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

Selected Variant

1 paper

NM_001031711.3

p.S206T

c.616T>A

Surrounding Variants

1 paper

NM_001031711.3

p.R204R

c.612G>T

1 paper

NM_001031711.3

p.K214_E215Splc

c.642+17T>G

1 paper

NM_001031711.3

p.K214_E215Splc

c.643-9C>A

1 paper

NM_001031711.3

p.Y216Y

c.648C>T

1 paper

NM_001031711.3

p.P227S

c.679C>T

1 paper

NM_001031711.3

p.R232H

c.695G>A

1 paper

NM_001031711.3

p.T239M

c.716C>T

1 paper

NM_001031711.3

p.T147M

c.440C>T

1 paper

NM_001031711.3

p.V132M

c.394G>A