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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GRHL2

Variant:p.Y398H

GRHL2

136 papers

RefSeq Summary

The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural d...

Pfam Domains

CP2aa 219–438UCSCCP2 transcription factor

GRHL1_Caa 535–624UCSCGRHL1-like, C-terminal domain

Gene Aliases

HGNC Name

grainyhead like transcription factor 2

HGNC Previous Symbols

DFNA28; TFCP2L3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

10 papers

chr8:101619632 T>C

NM_024915.4

p.Y398H

c.1192T>C

CP2

exact variant not in gnomAD25 overlapping SVs

Surrounding Variants

3 papers

chr8:101619653 C>A

NM_024915.4

p.P405T

c.1213C>A

CP2

Exome: 0.0% (AC=1, hom=0)Genome: n/a25 overlapping SVs

1 paper

chr8:101619659 C>T

NM_024915.4

p.H407Y

c.1219C>T

CP2

Exome: 0.0% (AC=1, hom=0)Genome: n/a25 overlapping SVs

1 paper

chr8:101619602 C>T

NM_024915.4

p.P388S

c.1162C>T

CP2

exact variant not in gnomAD25 overlapping SVs

1 paper

chr8:101619592 G>A

NM_024915.4

p.V384V

c.1152G>A

CP2

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=2, hom=0)25 overlapping SVs

4 papers

chr8:101619683 G>A

NM_024915.4

p.V415I

c.1243G>A

CP2

Exome: 0.5% (AC=7678, hom=269)Genome: 0.7% (AC=1104, hom=33)25 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."