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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KISS1

KISS1

163 papers

RefSeq Summary

This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and th...

Pfam Domains

Kisspeptinaa 46–122UCSCKisspeptin

Gene Aliases

HGNC Name

KiSS-1 metastasis suppressor

HGNC Alias Names

prepro-kisspeptin; kisspeptin

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 84 variants

33 papers

chr1:204190681 G>A

NM_002256.4

p.P74S

c.220C>T

Kisspeptin

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=12, hom=0)143 overlapping SVs

24 papers

chr1:204190659 G>C

NM_002256.4

p.P81R

c.242C>G

Kisspeptin

Exome: 26.0% (AC=372018, hom=49715)Genome: 29.6% (AC=44962, hom=7033)143 overlapping SVs

22 papers

chr1:204190573 G>T

NM_002256.4

p.P110T

c.328C>A

Kisspeptin

Exome: 0.1% (AC=1953, hom=43)Genome: 0.2% (AC=306, hom=9)143 overlapping SVs

16 papers

chr1:204190633 G>C

NM_002256.4

p.H90D

c.268C>G

Kisspeptin

Exome: 0.1% (AC=884, hom=8)Genome: 0.6% (AC=981, hom=6)143 overlapping SVs

14 papers

chr1:204192819 C>T

NM_002256.4

p.E20K

c.58G>A

Exome: 3.9% (AC=56486, hom=1173)Genome: 3.0% (AC=4510, hom=96)144 overlapping SVs

11 papers

chr1:204190794 T>C

NM_002256.4

p.Q36R

c.107A>G

Exome: 5.5% (AC=80643, hom=2834)Genome: 8.9% (AC=13593, hom=1027)143 overlapping SVs

11 papers

chr1:204190596 A>G

NM_002256.4

p.L102P

c.305T>C

Kisspeptin

exact variant not in gnomAD143 overlapping SVs

11 papers

chr1:204190483 CT>C

NM_002256.4

p.*139delFs

c.417delT

Exome: 21.8% (AC=315301, hom=35939)Genome: 19.0% (AC=28730, hom=3189)143 overlapping SVs

8 papers

chr1:204190556 G>C

NM_002256.4

p.N115K

c.345C>G

Kisspeptin

exact variant not in gnomAD143 overlapping SVs

5 papers

chr1:204190556 G>T

NM_002256.4

p.N115K

c.345C>A

Kisspeptin

Exome: 0.0% (AC=0, hom=0)Genome: n/a143 overlapping SVs

5 papers

chr1:204190484 T>C

NM_002256.4

p.*139W

c.417A>G

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=1, hom=0)143 overlapping SVs

4 papers

chr1:204190605 C>G

NM_002256.4

p.G99A

c.296G>C

Kisspeptin

exact variant not in gnomAD143 overlapping SVs

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