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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ULK4

Variant:p.L844M

ULK4

132 papers

RefSeq Summary

This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involve...

Pfam Domains

Pkinaseaa 4–280UCSCProtein kinase domain

HEAT_ULK4aa 813–1024UCSCSerine/threonine-protein kinase ULK4-like, HEAT repeats

Gene Aliases

HGNC Name

unc-51 like kinase 4

HGNC Alias Symbols

FLJ20574; REC01035; FAM7C1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

7 papers

chr3:41715494 A>T

NM_017886.4

p.L844M

c.2530T>A

HEAT_ULK4

Exome: 17.6% (AC=257631, hom=25238)Genome: 26.5% (AC=40306, hom=6869)67 overlapping SVs

Surrounding Variants

7 papers

chr3:41715473 C>T

NM_017886.4

p.V851I

c.2551G>A

HEAT_ULK4

Exome: 17.6% (AC=257617, hom=25242)Genome: 26.5% (AC=40334, hom=6876)67 overlapping SVs

1 paper

chr3:41715457 A>G

NM_017886.4

p.V856A

c.2567T>C

HEAT_ULK4

Exome: 0.0% (AC=92, hom=0)Genome: 0.0% (AC=3, hom=0)67 overlapping SVs

5 papers

chr3:41715287 G>A

NM_017886.4

p.R862*

c.2584C>T

HEAT_ULK4

Exome: 0.4% (AC=5711, hom=22)Genome: 0.3% (AC=408, hom=2)67 overlapping SVs

1 paper

chr3:41715269 C>T

NM_017886.4

p.E868K

c.2602G>A

HEAT_ULK4

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=1, hom=0)67 overlapping SVs

1 paper

chr3:41717736 C>A

NM_017886.4

p.R816L

c.2447G>T

HEAT_ULK4

exact variant not in gnomAD67 overlapping SVs

1 paper

chr3:41717756 G>C

NM_017886.4

p.H809Q

c.2427C>G

Exome: 0.0% (AC=4, hom=0)Genome: n/a67 overlapping SVs

1 paper

chr3:41717756 G>T

NM_017886.4

p.H809Q

c.2427C>A

exact variant not in gnomAD67 overlapping SVs

2 papers

chr3:41717796 T>C

NM_017886.4

p.N796S

c.2387A>G

Exome: 2.4% (AC=34534, hom=503)Genome: 2.0% (AC=3075, hom=60)67 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."