Varaico: Literature-Extracted Genetic Variants

Gene:TMEM185A
Variant:p.D103E

TMEM185A

22 papers

RefSeq Summary

The protein encoded by this gene is predicted to be a transmembrane protein. This gene is best known for localizing to the CpG island of the fragile site FRAXF. The 5' untranslated region of this gene...

Pfam Domains

Tmemb_185Aaa 4–194UCSCTransmembrane Fragile-X-F protein
Tmemb_185Aaa 30–173UCSCTransmembrane Fragile-X-F protein

Gene Aliases

HGNC Name

transmembrane protein 185A

HGNC Previous Symbols

CXorf13; FAM11A; FRAXF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032508.4
p.D103E
c.309C>G
Surrounding Variants
1 paper
NM_032508.4
p.A83V
c.248C>T
1 paper
NM_032508.4
p.T77M
c.230C>T
1 paper
NM_032508.4
p.W65R
c.193T>C
1 paper
NM_032508.4
p.W65R
c.193T>A
1 paper
NM_032508.4
p.L52insFs
c.156dupA
1 paper
NM_032508.4
p.L23R
c.68T>G
1 paper
NM_032508.4
p.L145L
c.433C>T
1 paper
NM_032508.4
p.S147F
c.440C>T
1 paper
NM_032508.4
p.I150delFs
c.449delA
1 paper
NM_032508.4
p.M179V
c.535A>G
1 paper
NM_032508.4
p.L254L
c.760T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."