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.P168S

c.502C>T

Surrounding Variants

1 paper

NM_015047.3

p.S170Splc

c.509+1G>T

8 papers

NM_015047.3

p.A144T

c.430G>A

1 paper

NM_015047.3

p.E138D

c.414G>T

1 paper

NM_015047.3

p.E138D

c.414G>C

2 papers

NM_015047.3

p.S127Splc

c.381-1G>A

1 paper

NM_015047.3

p.I173V

c.517A>G

1 paper

NM_015047.3

p.I173I

c.519C>A

1 paper

NM_015047.3

p.S180A

c.538T>G

1 paper

NM_015047.3

p.V197_I199delFs

c.591_597del7

1 paper

NM_015047.3

p.F202V

c.604T>G

1 paper

NM_015047.3

p.I106_E111del6

c.316_332del18

1 paper

NM_015047.3

p.R108C

c.322C>T