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.F947S

c.2840T>C

Surrounding Variants

1 paper

NM_198597.3

p.R950W

c.2848C>T

1 paper

NM_198597.3

p.R950Q

c.2849G>A

1 paper

NM_198597.3

p.T943I

c.2828C>T

1 paper

NM_198597.3

p.S937F

c.2810C>T

1 paper

NM_198597.3

p.D927N

c.2779G>A

1 paper

NM_198597.3

p.L917L

c.2749C>T

1 paper

NM_198597.3

p.S914N

c.2741G>A

1 paper

NM_198597.3

p.S891C

c.2672C>G

1 paper

NM_198597.3

p.R969*

c.2905C>T

1 paper

NM_198597.3

p.R868H

c.2603G>A

1 paper

NM_198597.3

p.A855A

c.2565A>G

1 paper

NM_198597.3

p.A855Splc

c.2563+6G>A