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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM185A

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

1–12 of 19 variants

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

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

1 paper

chrX:149631544 CT>N

NM_032508.4

p.S13fs

c.37_38fs

Tmemb_185A

exact variant not in gnomAD21 overlapping SVs

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:149611434 A>C

NM_032508.4

p.L23R

c.68T>G

exact variant not in gnomAD22 overlapping SVs

1 paper

chrX:149611344 A>AT

NM_032508.4

p.L52insFs

c.156dupA

Tmemb_185A

exact variant not in gnomAD22 overlapping SVs

1 paper

chrX:149611309 A>G

NM_032508.4

p.W65R

c.193T>C

Tmemb_185A

Exome: 0.0% (AC=6, hom=0)Genome: n/a22 overlapping SVs

1 paper

chrX:149611309 A>T

NM_032508.4

p.W65R

c.193T>A

Tmemb_185A

exact variant not in gnomAD22 overlapping SVs

1 paper

chrX:149608820 G>A

NM_032508.4

p.T77M

c.230C>T

Tmemb_185A

Exome: 0.0% (AC=175, hom=0)Genome: 0.0% (AC=12, hom=0)22 overlapping SVs

1 paper

chrX:149608802 G>A

NM_032508.4

p.A83V

c.248C>T

Tmemb_185A

exact variant not in gnomAD22 overlapping SVs

1 paper

chrX:149608741 G>C

NM_032508.4

p.D103E

c.309C>G

Tmemb_185A

exact variant not in gnomAD22 overlapping SVs

1 paper

chrX:149604061 G>A

NM_032508.4

p.L145L

c.433C>T

Tmemb_185A

exact variant not in gnomAD22 overlapping SVs

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