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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HIGD1B

HIGD1B

8 papers

RefSeq Summary

This gene encodes a member of the hypoxia inducible gene 1 (HIG1) domain family. The encoded protein is localized to the cell membrane and has been linked to tumorigenesis and the progression of pitui...

Pfam Domains

HIG_1_Naa 27–79UCSCHypoxia induced protein conserved region

Gene Aliases

HGNC Name

HIG1 hypoxia inducible domain family member 1B

HGNC Alias Symbols

CLST11240; CLST11240-15

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr17:44848171 T>A

NM_016438.4

p.W7R

c.19T>A

exact variant not in gnomAD12 overlapping SVs

1 paper

chr17:44848171 T>C

NM_016438.4

p.W7R

c.19T>C

Exome: 0.2% (AC=1307, hom=31)Genome: 0.1% (AC=95, hom=3)12 overlapping SVs

1 paper

chr17:44848192 G>A

NM_016438.4

p.E14K

c.40G>A

Exome: 0.0% (AC=3, hom=0)Genome: n/a12 overlapping SVs

1 paper

chr17:44849283 T>C

NM_016438.4

p.Y44H

c.130T>C

HIG_1_N

Exome: 0.0% (AC=2, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr17:44849344 C>T

NM_016438.4

p.T64I

c.191C>T

HIG_1_N

Exome: 0.0% (AC=1, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr17:44850353 G>A

NM_016438.4

p.S86N

c.257G>A

Exome: 34.3% (AC=499933, hom=89004)Genome: 29.2% (AC=44449, hom=7040)11 overlapping SVs

1 paper

chr17:44850355 G>A

NM_016438.4

p.D87N

c.259G>A

Exome: 2.3% (AC=33114, hom=447)Genome: 1.8% (AC=2711, hom=44)11 overlapping SVs

1 paper

chr17:44850361 G>A

NM_016438.4

p.V89I

c.265G>A

Exome: 0.0% (AC=221, hom=0)Genome: 0.0% (AC=32, hom=0)11 overlapping SVs

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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."