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.K465K

c.1395G>A

Surrounding Variants

1 paper

NM_178554.6

p.Q460*

c.1378C>T

1 paper

NM_178554.6

p.E459E

c.1377G>A

1 paper

NM_178554.6

p.L444P

c.1331T>C

1 paper

NM_178554.6

p.S427S

c.1281A>C

1 paper

NM_178554.6

p.F417F

c.1251T>C

2 papers

NM_178554.6

p.I416N

c.1247T>A

1 paper

NM_178554.6

p.H516insFs

c.1546_1547insC

1 paper

NM_178554.6

p.E522K

c.1564G>A

1 paper

NM_178554.6

p.G399_L402del0

c.1196_1204del9

1 paper

NM_178554.6

p.N398Y

c.1192A>T

1 paper

NM_178554.6

p.F538I

c.1612T>A

1 paper

NM_178554.6

p.K541R

c.1622A>G