Varaico: Literature-Extracted Genetic Variants

EMC1

143 papers

RefSeq Summary

This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encodin...

Pfam Domains

Beta-prop_EMC1_Naa 21–447UCSCEMC1 N-terminal beta-propeller domain

EMC1_Caa 531–950UCSCER membrane protein complex subunit 1, second beta-propeller

Gene Aliases

HGNC Name

ER membrane protein complex subunit 1

HGNC Previous Symbol

KIAA0090

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015047.3

p.Y305*

c.915C>A

Surrounding Variants

1 paper

NM_015047.3

p.Y305*

c.915C>G

1 paper

NM_015047.3

p.H306Q

c.918T>G

1 paper

NM_015047.3

p.H306Q

c.918T>A

1 paper

NM_015047.3

p.Q304R

c.911A>G

1 paper

NM_015047.3

p.G308V

c.923G>T

1 paper

NM_015047.3

p.T309M

c.926C>T

1 paper

NM_015047.3

p.Y300C

c.899A>G

2 papers

NM_015047.3

p.L295S

c.884T>C

2 papers

NM_015047.3

p.S287F

c.860C>T

1 paper

NM_015047.3

p.A286A

c.858T>G

1 paper

NM_015047.3

p.N282K

c.846C>G

1 paper

NM_015047.3

p.N282K

c.846C>A