Varaico: Literature-Extracted Genetic Variants

ERMARD

57 papers

RefSeq Summary

The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be...

Pfam Domains

DUF4209aa 133–214UCSCDomain of unknown function (DUF4209)

Gene Aliases

HGNC Name

ER membrane associated RNA degradation

HGNC Previous Symbol

C6orf70

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018341.3

p.I539I

c.1617C>T

Surrounding Variants

1 paper

NM_018341.3

p.I539_S540delins

c.1617_1618delinsTG

4 papers

NM_018341.3

p.S540G

c.1618A>G

1 paper

NM_018341.3

p.L536P

c.1607T>C

1 paper

NM_018341.3

p.R545C

c.1633C>T

1 paper

NM_018341.3

p.E531G

c.1592A>G

1 paper

NM_018341.3

p.V520I

c.1558G>A

1 paper

NM_018341.3

p.P519H

c.1556C>A

2 papers

NM_018341.3

p.R567W

c.1699C>T

1 paper

NM_001278532.2

p.Q384delFs

c.1150delC

1 paper

NM_018341.3

p.Y574C

c.1721A>G

2 papers

NM_018341.3

p.R502H

c.1505G>A

1 paper

NM_018341.3

p.R502C

c.1504C>T