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

5 papers

NM_178554.6

p.E357delFs

c.1071delC

Surrounding Variants

3 papers

NM_178554.6

p.T358fs

c.1072_1073fs

1 paper

NM_178554.6

p.T358fs

c.1072_1073fs

1 paper

NM_178554.6

p.H355Y

c.1063C>T

1 paper

NM_178554.6

p.V364Splc

c.1090+2T>C

1 paper

NM_178554.6

p.G350V

c.1049G>T

1 paper

NM_178554.6

p.E337E

c.1011G>A

1 paper

NM_178554.6

p.N323_W324ins10

c.967_971ins30

1 paper

NM_178554.6

p.P319S

c.955C>T

1 paper

NM_178554.6

p.D316A

c.947A>C

1 paper

NM_178554.6

p.A311_L312delFs

c.931_935del5

1 paper

NM_178554.6

p.H309H

c.927C>T

1 paper

NM_178554.6

p.I293V

c.877A>G