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

1–12 of 93 variants

5 papers

NM_178554.6

p.E357delFs

c.1071delC

4 papers

NM_178554.6

p.Y135*

c.405C>G

4 papers

NM_178554.6

p.Y135*

c.405C>A

3 papers

NM_178554.6

p.L274P

c.821T>C

3 papers

NM_178554.6

p.T358fs

c.1072_1073fs

2 papers

NM_178554.6

p.R139*

c.415C>T

2 papers

NM_178554.6

p.E275fs

c.823_824fs

2 papers

NM_178554.6

p.E275delFs

c.824delT

2 papers

NM_178554.6

p.I416N

c.1247T>A

1 paper

NM_178554.6

p.L3L

c.7C>T

1 paper

NM_178554.6

p.K4N

c.12G>C

1 paper

NM_178554.6

p.K5E

c.13A>G