Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM185A

Variant:p.S13fs

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chrX:149631544 CT>N

NM_032508.4

p.S13fs

c.37_38fs

Tmemb_185A

exact variant not in gnomAD21 overlapping SVs

Surrounding Variants

1 paper

chrX:149631542 C>T

NM_032508.4

p.S13Splc

c.38+1G>A

Tmemb_185A

Exome: 0.0% (AC=0, hom=0)Genome: n/a21 overlapping SVs

1 paper

chrX:149631569 C>T

NM_032508.4

p.R4R

c.12G>A

Tmemb_185A

Exome: 0.8% (AC=7996, hom=38)Genome: 0.6% (AC=720, hom=7)21 overlapping SVs

2 papers

chrX:149631570 C>T

NM_032508.4

p.R4K

c.11G>A

Tmemb_185A

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=19, hom=0)21 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."