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

1 paper

NM_178554.6

p.K5E

c.13A>G

Surrounding Variants

1 paper

NM_178554.6

p.K4N

c.12G>C

1 paper

NM_178554.6

p.L3L

c.7C>T

1 paper

NM_178554.6

p.N8K

c.24C>A

1 paper

NM_178554.6

p.D13N

c.37G>A

1 paper

NM_178554.6

p.M14K

c.41T>A

1 paper

NM_178554.6

p.I17I

c.51C>T

1 paper

NM_178554.6

p.I17_V18insFs

c.51_52ins28

1 paper

NM_178554.6

p.V18M

c.52G>A

1 paper

NM_178554.6

p.V18fs

c.52_53fs

1 paper

NM_178554.6

p.K22E

c.64A>G

1 paper

NM_178554.6

p.R24delFs

c.71_72delGC

1 paper

NM_178554.6

p.A35T

c.103G>A