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

Selected Variant

1 paper

NM_198597.3

p.G220C

c.658G>T

Surrounding Variants

2 papers

NM_198597.3

p.R222Q

c.665G>A

1 paper

NM_198597.3

p.L230F

c.688C>T

1 paper

NM_198597.3

p.L231Q

c.692T>A

1 paper

NM_198597.3

p.Q234del1

c.700_702delCAG

1 paper

NM_198597.3

p.S235delFs

c.704delG

1 paper

NM_198597.3

p.P244S

c.730C>T

1 paper

NM_198597.3

p.S249L

c.746C>T

1 paper

NM_198597.3

p.P255S

c.763C>T

1 paper

NM_198597.3

p.T261insFs

c.782_783ins13

1 paper

NM_198597.3

p.P263H

c.788C>A

1 paper

NM_198597.3

p.T164I

c.491C>T

1 paper

NM_198597.3

p.S156P

c.466T>C