Varaico: Literature-Extracted Genetic Variants

SEZ6

54 papers

RefSeq Summary

The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement...

Pfam Domains

Sushiaa 357–412UCSCSushi repeat (SCR repeat)

CUBaa 416–524UCSCCUB domain

Sushiaa 532–589UCSCSushi repeat (SCR repeat)

CUBaa 593–701UCSCCUB domain

Sushiaa 710–765UCSCSushi repeat (SCR repeat)

Sushiaa 771–830UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

seizure related 6 homolog

HGNC Previous Name

seizure related 6 homolog (mouse)

Papers

RefSeq ID

Protein change

DNA change

1–12 of 82 variants

5 papers

NM_178860.5

p.R615H

c.1844G>A

4 papers

NM_178860.5

p.T546A

c.1636A>G

2 papers

NM_178860.5

p.P48T

c.142C>A

2 papers

NM_178860.5

p.V55I

c.163G>A

2 papers

NM_178860.5

p.E79K

c.235G>A

2 papers

NM_178860.5

p.R657Q

c.1970G>A

2 papers

NM_178860.5

p.R963P

c.2888G>C

1 paper

NM_178860.5

p.V4insFs

c.11_12insC

1 paper

NM_178860.5

p.A17D

c.50C>A

1 paper

NM_178860.5

p.G30R

c.88G>A

1 paper

NM_178860.5

p.T59I

c.176C>T

1 paper

NM_178860.5

p.T59K

c.176C>A