Varaico: Literature-Extracted Genetic Variants

SEC23B

232 papers

RefSeq Summary

The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of...

Pfam Domains

zf-Sec23_Sec24aa 58–98UCSCSec23/Sec24 zinc finger

Sec23_trunkaa 116–374UCSCSec23/Sec24 trunk domain

Sec23_trunkaa 126–392UCSCSec23/Sec24 trunk domain

Sec23_BSaa 403–506UCSCSec23/Sec24 beta-sandwich domain

Sec23_helicalaa 520–619UCSCSec23/Sec24 helical domain

Gelsolinaa 631–720UCSCGelsolin repeat

Gene Aliases

HGNC Name

SEC23 homolog B, COPII component

HGNC Previous Symbol

CDAN2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006363.6

p.C88S

c.263G>C

Surrounding Variants

1 paper

NM_006363.6

p.N86insFs

c.258dupT

1 paper

NM_006363.6

p.N86fs

c.256_257fs

1 paper

NM_006363.6

p.C85Y

c.254G>A

2 papers

NM_006363.6

p.C85R

c.253T>C

1 paper

NM_006363.6

p.A84A

c.252C>G

1 paper

NM_006363.6

p.W83G

c.247T>G

1 paper

NM_006363.6

p.W83delFs

c.249delG

6 papers

NM_006363.6

p.Q93_F94Splc

c.279+3A>G

1 paper

NM_006363.6

p.L82_W83delFs

c.246_247delTT

1 paper

NM_006363.6

p.Q93_F94Splc

c.279+5G>A

1 paper

NM_006363.6

p.K81insFs

c.241dupA

1 paper

NM_006363.6

p.R79Q

c.236G>A