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

2 papers

NM_178554.6

p.E275delFs

c.824delT

Surrounding Variants

2 papers

NM_178554.6

p.E275fs

c.823_824fs

3 papers

NM_178554.6

p.L274P

c.821T>C

1 paper

NM_178554.6

p.V281G

c.842T>G

1 paper

NM_178554.6

p.D282Y

c.844G>T

1 paper

NM_178554.6

p.D282N

c.844G>A

1 paper

NM_178554.6

p.V281_W285delFs

c.842_855del14

1 paper

NM_178554.6

p.S262S

c.786G>C

1 paper

NM_178554.6

p.F261L

c.783C>G

1 paper

NM_178554.6

p.F261L

c.783C>A

1 paper

NM_178554.6

p.F261L

c.781T>C

1 paper

NM_178554.6

p.D291V

c.872A>T

1 paper

NM_178554.6

p.D291A

c.872A>C