Varaico: Literature-Extracted Genetic Variants

KY

120 papers

RefSeq Summary

The protein encoded by this gene belongs to the transglutaminase-like superfamily. The protein is involved in the function, maturation and stabilization of the neuromuscular junction and may be requir...

Pfam Domains

Transglut_coreaa 169–283UCSCTransglutaminase-like superfamily

Ig-like_KYaa 333–446UCSCKY-like, immunoglobulin-like domain

Ig-like_KYaa 445–569UCSCKY-like, immunoglobulin-like domain

Gene Aliases

HGNC Name

kyphoscoliosis peptidase

HGNC Alias Symbol

FLJ33207

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_178554.6

p.Y135*

c.405C>G

Surrounding Variants

4 papers

NM_178554.6

p.Y135*

c.405C>A

2 papers

NM_178554.6

p.R139*

c.415C>T

1 paper

NM_178554.6

p.N121Y

c.361A>T

1 paper

NM_178554.6

p.L171L

c.511C>T

1 paper

NM_178554.6

p.L176I

c.526C>A

1 paper

NM_178554.6

p.Q177R

c.530A>G

1 paper

NM_178554.6

p.V186G

c.557T>G

1 paper

NM_178554.6

p.V186V

c.558C>A

1 paper

NM_178554.6

p.R187H

c.560G>A

1 paper

NM_178554.6

p.F108insFs

c.323_324ins10

1 paper

NM_178554.6

p.T92A

c.274A>G

1 paper

NM_178554.6

p.R209C

c.625C>T