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

3 papers

NM_015047.3

p.D96fs

c.286_287fs

Surrounding Variants

7 papers

NM_015047.3

p.D96Splc

c.287-1G>A

1 paper

NM_015047.3

p.I98I

c.294C>T

2 papers

NM_015047.3

p.D96_G104del0

c.287_310del24

2 papers

NM_015047.3

p.R105*

c.313C>T

1 paper

NM_015047.3

p.G104_R105insFs

c.312_313ins5

1 paper

NM_015047.3

p.R105Q

c.314G>A

1 paper

NM_015047.3

p.I106insFs

c.317_318ins5

1 paper

NM_015047.3

p.R108C

c.322C>T

1 paper

NM_015047.3

p.I106_E111del6

c.316_332del18

1 paper

NM_015047.3

p.D96Splc

c.286+92G>A

1 paper

NM_015047.3

p.H93D

c.277C>G

1 paper

NM_015047.3

p.D88G

c.263A>G