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

3 papers

NM_198597.3

p.D796V

c.2387A>T

Surrounding Variants

3 papers

NM_198597.3

p.D797N

c.2389G>A

1 paper

NM_198597.3

p.D797A

c.2390A>C

1 paper

NM_198597.3

p.V791L

c.2371G>C

1 paper

NM_198597.3

p.V791L

c.2371G>T

1 paper

NM_198597.3

p.G782_L783ins13

c.2344_2348ins39

1 paper

NM_198597.3

p.V778A

c.2333T>C

1 paper

NM_198597.3

p.S758N

c.2273G>A

1 paper

NM_198597.3

p.R756W

c.2266C>T

1 paper

NM_198597.3

p.M753V

c.2257A>G

1 paper

NM_198597.3

p.R821W

c.2461C>T

1 paper

NM_198597.3

p.R823H

c.2468G>A

1 paper

NM_198597.3

p.R734W

c.2200C>T