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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FGF6

FGF6

131 papers

RefSeq Summary

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of bio...

Pfam Domains

FGFaa 84–205UCSCFibroblast growth factor

Gene Aliases

HGNC Name

fibroblast growth factor 6

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 97 variants

8 papers

chr12:4444155 C>T

NM_020996.3

p.S143N

c.428G>A

FGF

Exome: 0.0% (AC=120, hom=2)Genome: 0.0% (AC=16, hom=0)6 overlapping SVs

6 papers

chr12:4445443 C>T

NM_020996.3

p.R43H

c.128G>A

Exome: 0.0% (AC=137, hom=0)Genome: 0.0% (AC=12, hom=0)6 overlapping SVs

5 papers

chr12:4445321 G>A

NM_020996.3

p.R84W

c.250C>T

FGF

Exome: 0.0% (AC=137, hom=0)Genome: 0.0% (AC=9, hom=0)6 overlapping SVs

5 papers

chr12:4444204 C>T

NM_020996.3

p.V127M

c.379G>A

FGF

Exome: 0.0% (AC=108, hom=1)Genome: 0.1% (AC=87, hom=4)6 overlapping SVs

5 papers

chr12:4434280 G>A

NM_020996.3

p.R188W

c.562C>T

FGF

Exome: 0.0% (AC=130, hom=0)Genome: 0.0% (AC=17, hom=0)6 overlapping SVs

4 papers

chr12:4445464 A>G

NM_020996.3

p.V36A

c.107T>C

Exome: 15.3% (AC=223144, hom=18078)Genome: 13.8% (AC=20961, hom=1622)6 overlapping SVs

4 papers

chr12:4445382 G>C

NM_020996.3

p.A63A

c.189C>G

Exome: 99.1% (AC=1448443, hom=719243)Genome: 91.5% (AC=139367, hom=65099)6 overlapping SVs

3 papers

chr12:4445384 C>T

NM_020996.3

p.A63T

c.187G>A

Exome: 0.1% (AC=1560, hom=14)Genome: 0.2% (AC=275, hom=4)6 overlapping SVs

3 papers

chr12:4444217 A>G

NM_020996.3

p.T122T

c.366T>C

FGF

Exome: 41.0% (AC=596816, hom=124560)Genome: 44.7% (AC=67926, hom=15868)6 overlapping SVs

3 papers

chr12:4444166 A>G

NM_020996.3

p.V139V

c.417T>C

FGF

Exome: 40.8% (AC=595633, hom=123852)Genome: 44.0% (AC=66936, hom=15296)6 overlapping SVs

3 papers

chr12:4444139 G>A

NM_020996.3

p.Y148Y

c.444C>T

FGF

Exome: 0.0% (AC=127, hom=0)Genome: 0.0% (AC=11, hom=0)6 overlapping SVs

3 papers

chr12:4444134 G>A

NM_020996.3

p.T150M

c.449C>T

FGF

Exome: 0.0% (AC=156, hom=0)Genome: 0.0% (AC=7, hom=0)6 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."