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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPINK6

SPINK6

16 papers

RefSeq Summary

The protein encoded by this gene is a Kazal-type serine protease inhibitor that acts on kallikrein-related peptidases in the skin. Two transcript variants the same protein have been found for this gen...

Pfam Domains

Kazal_1aa 30–80UCSCKazal-type serine protease inhibitor domain

Gene Aliases

HGNC Name

serine peptidase inhibitor Kazal type 6

HGNC Alias Symbols

MGC21394; UNQ844; BUSI2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

7 papers

chr5:148213934 C>A

NM_205841.4

p.P36T

c.106C>A

Kazal_1

Exome: 89.5% (AC=1305354, hom=591478)Genome: 75.0% (AC=113957, hom=47248)45 overlapping SVs

1 paper

chr5:148203129 T>G

NM_205841.4

p.S11S

c.33T>G

exact variant not in gnomAD45 overlapping SVs

1 paper

chr5:148213909 G>T

NM_205841.4

p.Q27_V28Splc

c.82-1G>T

exact variant not in gnomAD45 overlapping SVs

1 paper

chr5:148213952 C>G

NM_205841.4

p.R42G

c.124C>G

Kazal_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a45 overlapping SVs

1 paper

chr5:148214009 T>A

NM_205841.4

p.F61I

c.181T>A

Kazal_1

Exome: 0.0% (AC=0, hom=0)Genome: n/a45 overlapping SVs

1 paper

chr5:148214014 T>A

NM_205841.4

p.C62*

c.186T>A

Kazal_1

exact variant not in gnomAD45 overlapping SVs

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