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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FOXA3

FOXA3

59 papers

RefSeq Summary

This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyret...

Pfam Domains

Forkhead_Naa 16–116UCSCForkhead N-terminal region

Forkheadaa 116–202UCSCForkhead domain

Gene Aliases

HGNC Name

forkhead box A3

HGNC Previous Symbol

HNF3G

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 99 variants

4 papers

chr19:45872383 C>G

NM_004497.3

p.I126M

c.378C>G

Forkhead

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)8 overlapping SVs

4 papers

chr19:45872521 C>T

NM_004497.3

p.N172N

c.516C>T

Forkhead

Exome: 12.0% (AC=175822, hom=13808)Genome: 16.7% (AC=25375, hom=2700)8 overlapping SVs

3 papers

chr19:45872350 C>T

NM_004497.3

p.H115H

c.345C>T

Forkhead_N Forkhead

Exome: 1.0% (AC=15111, hom=110)Genome: 0.7% (AC=1045, hom=3)8 overlapping SVs

3 papers

chr19:45872448 T>G

NM_004497.3

p.M148R

c.443T>G

Forkhead

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)8 overlapping SVs

3 papers

chr19:45872452 C>A

NM_004497.3

p.D149E

c.447C>A

Forkhead

exact variant not in gnomAD8 overlapping SVs

3 papers

chr19:45872452 C>G

NM_004497.3

p.D149E

c.447C>G

Forkhead

Exome: 0.0% (AC=17, hom=0)Genome: n/a8 overlapping SVs

3 papers

chr19:45872469 G>A

NM_004497.3

p.R155Q

c.464G>A

Forkhead

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=9, hom=0)8 overlapping SVs

2 papers

chr19:45872309 G>A

NM_004497.3

p.G102R

c.304G>A

Forkhead_N

Exome: 0.0% (AC=15, hom=0)Genome: 0.0% (AC=3, hom=0)8 overlapping SVs

2 papers

chr19:45872309 G>C

NM_004497.3

p.G102R

c.304G>C

Forkhead_N

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)8 overlapping SVs

2 papers

chr19:45872319 T>A

NM_004497.3

p.M105K

c.314T>A

Forkhead_N

Exome: 0.0% (AC=1, hom=0)Genome: n/a8 overlapping SVs

2 papers

chr19:45872319 T>G

NM_004497.3

p.M105R

c.314T>G

Forkhead_N

exact variant not in gnomAD8 overlapping SVs

2 papers

chr19:45872322 C>T

NM_004497.3

p.P106L

c.317C>T

Forkhead_N

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=4, hom=0)8 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."