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.V807I

c.2419G>A

Surrounding Variants

1 paper

NM_015047.3

p.N803S

c.2408A>G

1 paper

NM_015047.3

p.R801W

c.2401C>T

1 paper

NM_015047.3

p.N797delFs

c.2390delT

1 paper

NM_015047.3

p.N818S

c.2453A>G

1 paper

NM_015047.3

p.L834P

c.2501T>C

1 paper

NM_015047.3

p.Q835*

c.2503C>T

1 paper

NM_015047.3

p.Q836*

c.2506C>T

1 paper

NM_015047.3

p.R859*

c.2575C>T

1 paper

NM_015047.3

p.V792_Y793Splc

c.2376+6C>T

2 papers

NM_015047.3

p.V792fs

c.2374_2375fs

2 papers

NM_015047.3

p.V792V

c.2376G>A

1 paper

NM_001271429.2

p.I762V

c.2284A>G