Varaico: Literature-Extracted Genetic Variants

TMEM208

8 papers

RefSeq Summary

This gene encodes a highly conserved protein which is localized in the endoplasmic reticulum (ER). The protein is linked to autophagy and ER stress. Knockdown of this gene increased autophagy and trig...

Pfam Domains

TMEM208_SND2aa 1–100UCSCSRP-independent targeting protein 2/TMEM208

TMEM208_SND2aa 7–170UCSCSRP-independent targeting protein 2/TMEM208

Gene Aliases

HGNC Name

transmembrane protein 208

HGNC Alias Symbols

HSPC171; hSND2; SND2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014187.4

p.E81Q

c.241G>C

Surrounding Variants

1 paper

NM_014187.4

p.E81K

c.241G>A

1 paper

NM_014187.4

p.H69Y

c.205C>T

1 paper

NM_014187.4

p.F59fs

c.175_176fs

1 paper

NM_014187.4

p.F59fs

c.175_176fs

1 paper

NM_014187.4

p.F59delFs

c.177delT

1 paper

NM_014187.4

p.L120L

c.360C>G

1 paper

NM_014187.4

p.P130A

c.388C>G

1 paper

NM_014187.4

p.R167Q

c.500G>A

1 paper

NM_014187.4

p.L27P

c.80T>C

1 paper

NM_014187.4

p.E18Q

c.52G>C

1 paper

NM_014187.4

p.G11R

c.31G>C