Varaico: Literature-Extracted Genetic Variants

SEZ6L2

68 papers

RefSeq Summary

This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum ...

Pfam Domains

Sushiaa 290–345UCSCSushi repeat (SCR repeat)

Sushiaa 464–523UCSCSushi repeat (SCR repeat)

CUBaa 527–631UCSCCUB domain

Sushiaa 644–699UCSCSushi repeat (SCR repeat)

Sushiaa 705–764UCSCSushi repeat (SCR repeat)

Sushiaa 771–828UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

seizure related 6 homolog like 2

HGNC Alias Symbols

PSK-1; FLJ90517

Papers

RefSeq ID

Protein change

DNA change

1–12 of 85 variants

9 papers

NM_001243332.2

p.R386H

c.1157G>A

3 papers

NM_001243332.2

p.P90L

c.269C>T

3 papers

NM_001243332.2

p.Q255H

c.765A>T

3 papers

NM_001243332.2

p.D518N

c.1552G>A

3 papers

NM_001243332.2

p.A765T

c.2293G>A

2 papers

NM_001243332.2

p.P81L

c.242C>T

2 papers

NM_001243332.2

p.V193I

c.577G>A

2 papers

NM_001243332.2

p.G234S

c.700G>A

2 papers

NM_001243332.2

p.C316Y

c.947G>A

2 papers

NM_001243332.2

p.S396L

c.1187C>T

2 papers

NM_001243332.2

p.P588L

c.1763C>T

2 papers

NM_001243332.2

p.R716C

c.2146C>T