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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DHRS4L2

Variant:p.K15R

DHRS4L2

49 papers

RefSeq Summary

This gene encodes a member of the short chain dehydrogenase reductase family. The encoded protein may be an NADPH dependent retinol oxidoreductase. Alternate splicing results in multiple transcript va...

Pfam Domains

adh_shortaa 1–114UCSCshort chain dehydrogenase

adh_short_C2aa 35–83UCSCEnoyl-(Acyl carrier protein) reductase

Gene Aliases

HGNC Name

dehydrogenase/reductase 4 like 2

HGNC Alias Symbol

SDR25C3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr14:23988991 A>G

NM_198083.4

p.K15R

c.44A>G

Exome: 0.0% (AC=263, hom=2)Genome: 0.0% (AC=31, hom=2)5 overlapping SVs

Surrounding Variants

1 paper

chr14:23988994 C>T

NM_198083.4

p.S16L

c.47C>T

Exome: 0.0% (AC=3, hom=0)Genome: n/a5 overlapping SVs

1 paper

chr14:23988988 G>A

NM_198083.4

p.R14Q

c.41G>A

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=2, hom=1)5 overlapping SVs

2 papers

chr14:23989002 A>C

NM_198083.4

p.M19L

c.55A>C

exact variant not in gnomAD5 overlapping SVs

2 papers

chr14:23989002 A>T

NM_198083.4

p.M19L

c.55A>T

Exome: 12.6% (AC=184053, hom=15903)Genome: 14.0% (AC=21271, hom=1992)5 overlapping SVs

3 papers

chr14:23989027 G>A

NM_198083.4

p.R27Q

c.80G>A

Exome: 3.3% (AC=48515, hom=1838)Genome: 3.7% (AC=5633, hom=216)5 overlapping SVs

3 papers

chr14:23988953 G>C

NM_198083.4

p.Q2H

c.6G>C

Exome: 38.0% (AC=554443, hom=123507)Genome: 52.4% (AC=79430, hom=26086)6 overlapping SVs

3 papers

chr14:23988953 G>T

NM_198083.4

p.Q2H

c.6G>T

exact variant not in gnomAD6 overlapping SVs

1 paper

chr14:23989074 G>T

NM_198083.4

p.G43W

c.127G>T

adh_short

Exome: 0.2% (AC=3054, hom=120)Genome: 2.0% (AC=3088, hom=137)5 overlapping SVs

1 paper

chr14:23990198 G>A

NM_198083.4

p.A49T

c.145G>A

adh_short

Exome: 1.9% (AC=27964, hom=855)Genome: 3.3% (AC=4950, hom=194)6 overlapping SVs

1 paper

chr14:23990202 G>A

NM_198083.4

p.R50Q

c.149G>A

adh_short

Exome: 0.1% (AC=1021, hom=26)Genome: 0.1% (AC=85, hom=2)6 overlapping SVs

1 paper

chr14:23990219 A>G

NM_198083.4

p.R56G

c.166A>G

adh_short

Exome: 2.5% (AC=36727, hom=1630)Genome: 2.2% (AC=3381, hom=109)6 overlapping SVs

1 paper

chr14:23990225 C>T

NM_198083.4

p.H58Y

c.172C>T

adh_short

exact variant not in gnomAD6 overlapping SVs

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