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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SEMG1

SEMG1

52 papers

RefSeq Summary

The protein encoded by this gene is the predominant protein in semen. The encoded secreted protein is involved in the formation of a gel matrix that encases ejaculated spermatozoa. This preproprotein ...

Pfam Domains

Semenogelinaa 1–332UCSCSemenogelin

Semenogelinaa 284–462UCSCSemenogelin

Gene Aliases

HGNC Name

semenogelin 1

HGNC Alias Symbol

CT103

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 53 variants

3 papers

chr20:45208411 C>T

NM_003007.5

p.R372C

c.1114C>T

Semenogelin

Exome: 0.0% (AC=71, hom=0)Genome: 0.0% (AC=7, hom=0)12 overlapping SVs

2 papers

chr20:45207521 A>T

NM_003007.5

p.D75V

c.224A>T

Semenogelin

Exome: 0.0% (AC=15, hom=0)Genome: 0.0% (AC=3, hom=0)11 overlapping SVs

2 papers

chr20:45207575 C>T

NM_003007.5

p.T93M

c.278C>T

Semenogelin

Exome: 0.0% (AC=48, hom=0)Genome: 0.0% (AC=4, hom=0)11 overlapping SVs

2 papers

chr20:45208356 G>A

NM_003007.5

p.T353T

c.1059G>A

Semenogelin

Exome: 0.3% (AC=4899, hom=23)Genome: 1.8% (AC=2272, hom=0)13 overlapping SVs

1 paper

chr20:45207061 C>T

NM_003007.5

p.P3L

c.8C>T

Semenogelin

Exome: 0.0% (AC=1, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr20:45207076 T>C

NM_003007.5

p.V8A

c.23T>C

Semenogelin

Exome: 0.0% (AC=6, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr20:45207407 C>A

NM_003007.5

p.S37Y

c.110C>A

Semenogelin

exact variant not in gnomAD11 overlapping SVs

1 paper

chr20:45207413 T>G

NM_003007.5

p.F39C

c.116T>G

Semenogelin

exact variant not in gnomAD11 overlapping SVs

1 paper

chr20:45207420 C>A

NM_003007.5

p.H41Q

c.123C>A

Semenogelin

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)11 overlapping SVs

1 paper

chr20:45207422 G>A

NM_003007.5

p.G42E

c.125G>A

Semenogelin

exact variant not in gnomAD11 overlapping SVs

1 paper

chr20:45207424 C>A

NM_003007.5

p.Q43K

c.127C>A

Semenogelin

exact variant not in gnomAD11 overlapping SVs

1 paper

chr20:45207487 T>G

NM_003007.5

p.S64A

c.190T>G

Semenogelin

exact variant not in gnomAD11 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."