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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ULK4

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

1–12 of 178 variants

14 papers

chr3:41883906 C>T

NM_017886.4

p.A542T

c.1624G>A

Exome: 82.0% (AC=1192701, hom=493818)Genome: 68.9% (AC=104900, hom=39499)71 overlapping SVs

12 papers

chr3:41918514 T>C

NM_017886.4

p.I224V

c.670A>G

Pkinase

Exome: 81.6% (AC=1166405, hom=480896)Genome: 68.0% (AC=103031, hom=38612)70 overlapping SVs

11 papers

chr3:41954644 T>C

NM_017886.4

p.K39R

c.116A>G

Pkinase

Exome: 81.9% (AC=1196390, hom=494953)Genome: 68.2% (AC=103732, hom=39046)67 overlapping SVs

7 papers

chr3:41911360 T>C

NM_017886.4

p.S348G

c.1042A>G

Exome: 13.8% (AC=201910, hom=14763)Genome: 12.5% (AC=19062, hom=1374)71 overlapping SVs

7 papers

chr3:41835922 T>C

NM_017886.4

p.K569R

c.1706A>G

Exome: 16.4% (AC=238578, hom=20311)Genome: 18.2% (AC=27525, hom=2563)70 overlapping SVs

7 papers

chr3:41819492 C>CN

NM_017886.4

p.K593fs

c.1777_1778fs

exact variant not in gnomAD67 overlapping SVs

7 papers

chr3:41789711 C>T

NM_017886.4

p.A715T

c.2143G>A

Exome: 13.8% (AC=201160, hom=14728)Genome: 12.2% (AC=18622, hom=1333)67 overlapping SVs

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

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

6 papers

chr3:41819492 CT>C

NM_017886.4

p.K593delFs

c.1778delT

Exome: 0.1% (AC=788, hom=0)Genome: 0.0% (AC=6, hom=0)67 overlapping SVs

5 papers

chr3:41800224 A>C

NM_017886.4

p.S640A

c.1918T>G

Exome: 84.1% (AC=1229387, hom=518048)Genome: 87.1% (AC=132549, hom=58179)69 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

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