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.D478Splc

c.1433-2A>G

Surrounding Variants

1 paper

NM_015047.3

p.G482R

c.1444G>C

1 paper

NM_015047.3

p.G482R

c.1444G>A

1 paper

NM_015047.3

p.R487fs

c.1459_1460fs

1 paper

NM_015047.3

p.R487H

c.1460G>A

1 paper

NM_015047.3

p.R487delFs

c.1459delG

1 paper

NM_015047.3

p.Q533*

c.1597C>T

1 paper

NM_015047.3

p.W557L

c.1670G>T

1 paper

NM_015047.3

p.K571I

c.1712A>T

1 paper

NM_001271428.2

p.F580fs

c.1738_1739fs

1 paper

NM_015047.3

p.F581F

c.1743C>T

1 paper

NM_001271428.2

p.F580delFs

c.1739delA

3 papers

NM_015047.3

p.P582R

c.1745C>G