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

57 papers

NM_006363.6

p.E109K

c.325G>A

Surrounding Variants

1 paper

NM_006363.6

p.Q113L

c.338A>T

1 paper

NM_006363.6

p.E103_V104delFs

c.309_312del4

1 paper

NM_006363.6

p.T116P

c.346A>C

1 paper

NM_006363.6

p.I101V

c.301A>G

1 paper

NM_006363.6

p.I117V

c.349A>G

1 paper

NM_006363.6

p.E118G

c.353A>G

1 paper

NM_006363.6

p.Y98C

c.293A>G

1 paper

NM_006363.6

p.V120M

c.358G>A

1 paper

NM_006363.6

p.Q93_F94Splc

c.279+5G>A

6 papers

NM_006363.6

p.Q93_F94Splc

c.279+3A>G

1 paper

NM_006363.6

p.C88S

c.263G>C

1 paper

NM_006363.6

p.N86insFs

c.258dupT