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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCGB1D1

SCGB1D1

9 papers

RefSeq Summary

The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral pro...

Pfam Domains

Uteroglobinaa 1–88UCSCUteroglobin family

Gene Aliases

HGNC Name

secretoglobin family 1D member 1

HGNC Alias Symbols

LPHA; MGC71958

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr11:62190318 C>CN

NM_006552.2

p.L12fs

c.34_35fs

Uteroglobin

exact variant not in gnomAD30 overlapping SVs

1 paper

chr11:62190318 CT>C

NM_006552.2

p.L12delFs

c.35delT

Uteroglobin

exact variant not in gnomAD30 overlapping SVs

1 paper

chr11:62190335 C>A

NM_006552.2

p.Y17*

c.51C>A

Uteroglobin

exact variant not in gnomAD30 overlapping SVs

1 paper

chr11:62190335 C>G

NM_006552.2

p.Y17*

c.51C>G

Uteroglobin

Exome: 0.0% (AC=451, hom=1)Genome: 0.0% (AC=62, hom=1)30 overlapping SVs

1 paper

chr11:62190337 G>A

NM_006552.2

p.R18Q

c.53G>A

Uteroglobin

Exome: 0.2% (AC=2991, hom=6)Genome: 0.2% (AC=265, hom=0)30 overlapping SVs

1 paper

chr11:62192059 A>C

NM_006552.2

p.N20T

c.59A>C

Uteroglobin

Exome: 0.3% (AC=3636, hom=8)Genome: 0.2% (AC=231, hom=1)30 overlapping SVs

1 paper

chr11:62192136 C>T

NM_006552.2

p.L46F

c.136C>T

Uteroglobin

exact variant not in gnomAD30 overlapping SVs

1 paper

chr11:62192179 T>C

NM_006552.2

p.M60T

c.179T>C

Uteroglobin

exact variant not in gnomAD30 overlapping SVs

1 paper

chr11:62192203 C>T

NM_006552.2

p.T68M

c.203C>T

Uteroglobin

Exome: 0.0% (AC=258, hom=3)Genome: 0.0% (AC=18, hom=0)30 overlapping SVs

1 paper

chr11:62192213 T>A

NM_006552.2

p.Y71*

c.213T>A

Uteroglobin

Exome: 0.0% (AC=1, hom=0)Genome: n/a30 overlapping SVs

1 paper

chr11:62192213 T>G

NM_006552.2

p.Y71*

c.213T>G

Uteroglobin

Exome: 0.0% (AC=3, hom=0)Genome: n/a30 overlapping SVs

1 paper

chr11:62192233 C>T

NM_006552.2

p.T78I

c.233C>T

Uteroglobin

Exome: 0.0% (AC=1, hom=0)Genome: n/a30 overlapping SVs

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