Varaico: Literature-Extracted Genetic Variants

SEC24C

92 papers

RefSeq Summary

The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of...

Pfam Domains

zf-Sec23_Sec24aa 422–460UCSCSec23/Sec24 zinc finger

Sec23_trunkaa 499–743UCSCSec23/Sec24 trunk domain

Sec23_BSaa 748–832UCSCSec23/Sec24 beta-sandwich domain

Sec23_helicalaa 843–945UCSCSec23/Sec24 helical domain

Gelsolinaa 961–1036UCSCGelsolin repeat

Gene Aliases

HGNC Name

SEC24 homolog C, COPII component

HGNC Alias Symbol

KIAA0079

Papers

RefSeq ID

Protein change

DNA change

1–12 of 129 variants

3 papers

NM_198597.3

p.D796V

c.2387A>T

3 papers

NM_198597.3

p.D797N

c.2389G>A

2 papers

NM_198597.3

p.Y23F

c.68A>T

2 papers

NM_198597.3

p.A68T

c.202G>A

2 papers

NM_198597.3

p.R222Q

c.665G>A

2 papers

NM_198597.3

p.R340W

c.1018C>T

2 papers

NM_198597.3

p.G348V

c.1043G>T

2 papers

NM_198597.3

p.M387T

c.1160T>C

2 papers

NM_198597.3

p.S500R

c.1498A>C

2 papers

NM_198597.3

p.S500R

c.1500C>A

2 papers

NM_198597.3

p.S500R

c.1500C>G

2 papers

NM_198597.3

p.T708T

c.2124A>G