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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCGB1D2

Variant:p.V80A

SCGB1D2

12 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 1–89UCSCUteroglobin family

Gene Aliases

HGNC Name

secretoglobin family 1D member 2

HGNC Alias Symbol

LPHB

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:62243472 T>C

NM_006551.4

p.V80A

c.239T>C

Uteroglobin

Exome: 0.0% (AC=648, hom=3)Genome: 0.1% (AC=103, hom=0)31 overlapping SVs

Surrounding Variants

1 paper

chr11:62243454 G>A

NM_006551.4

p.R74Q

c.221G>A

Uteroglobin

Exome: 0.0% (AC=29, hom=0)Genome: 0.0% (AC=5, hom=0)31 overlapping SVs

1 paper

chr11:62243443 C>T

NM_006551.4

p.S70S

c.210C>T

Uteroglobin

exact variant not in gnomAD31 overlapping SVs

1 paper

chr11:62243393 G>A

NM_006551.4

p.E54K

c.160G>A

Uteroglobin

exact variant not in gnomAD31 overlapping SVs

3 papers

chr11:62243391 C>T

NM_006551.4

p.P53L

c.158C>T

Uteroglobin

Exome: 36.8% (AC=537867, hom=107124)Genome: 34.3% (AC=52118, hom=10035)31 overlapping SVs

1 paper

chr11:62243385 C>A

NM_006551.4

p.A51D

c.152C>A

Uteroglobin

Exome: 0.0% (AC=289, hom=0)Genome: 0.0% (AC=12, hom=0)31 overlapping SVs

1 paper

chr11:62243373 C>T

NM_006551.4

p.A47V

c.140C>T

Uteroglobin

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=4, hom=0)31 overlapping SVs

2 papers

chr11:62243303 T>C

NM_006551.4

p.C24R

c.70T>C

Uteroglobin

Exome: 0.0% (AC=715, hom=3)Genome: 0.0% (AC=61, hom=0)31 overlapping SVs

1 paper

chr11:62242359 C>A

NM_006551.4

p.Q18K

c.52C>A

Uteroglobin

exact variant not in gnomAD30 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."