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

2 papers

NM_198597.3

p.G348V

c.1043G>T

Surrounding Variants

2 papers

NM_198597.3

p.R340W

c.1018C>T

1 paper

NM_198597.3

p.T358I

c.1073C>T

1 paper

NM_198597.3

p.T359I

c.1076C>T

1 paper

NM_198597.3

p.Q366*

c.1096C>T

1 paper

NM_198597.3

p.G367Splc

c.1099+2T>C

1 paper

NM_198597.3

p.R372Q

c.1115G>A

1 paper

NM_198597.3

p.I374V

c.1120A>G

1 paper

NM_198597.3

p.R375*

c.1123C>T

1 paper

NM_198597.3

p.R375Q

c.1124G>A

1 paper

NM_198597.3

p.T377A

c.1129A>G

1 paper

NM_198597.3

p.N380fs

c.1138_1139fs

1 paper

NM_198597.3

p.I381L

c.1141A>C