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.E232A

c.695A>C

Surrounding Variants

1 paper

NM_015047.3

p.D231G

c.692A>G

1 paper

NM_015047.3

p.G228C

c.682G>T

1 paper

NM_015047.3

p.P240L

c.719C>T

1 paper

NM_015047.3

p.L223insFs

c.668dupT

1 paper

NM_015047.3

p.L223fs

c.667_668fs

1 paper

NM_015047.3

p.P218L

c.653C>T

1 paper

NM_015047.3

p.T252M

c.755C>T

1 paper

NM_015047.3

p.L256F

c.768G>T

2 papers

NM_015047.3

p.L256fs

c.766_767fs

2 papers

NM_015047.3

p.I259Fs

c.777delinsATTCTACTTFs

1 paper

NM_015047.3

p.E255_I259Fs

c.765_777delinsATTCTACTTFs

2 papers

NM_015047.3

p.L266*

c.797T>G