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.Y98C

c.293A>G

Surrounding Variants

1 paper

NM_006363.6

p.I101V

c.301A>G

1 paper

NM_006363.6

p.E103_V104delFs

c.309_312del4

57 papers

NM_006363.6

p.E109K

c.325G>A

1 paper

NM_006363.6

p.Q113L

c.338A>T

1 paper

NM_006363.6

p.T116P

c.346A>C

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.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