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.D705H

c.2113G>C

Surrounding Variants

1 paper

NM_198597.3

p.D705_V706insFs

c.2115_2116ins10

1 paper

NM_198597.3

p.V706M

c.2116G>A

1 paper

NM_198597.3

p.V704del1

c.2110_2111delGTG

2 papers

NM_198597.3

p.T708T

c.2124A>G

1 paper

NM_198597.3

p.L709H

c.2126T>A

1 paper

NM_198597.3

p.P700_Q702del0

c.2100_2105del6

1 paper

NM_198597.3

p.F699_P700insFs

c.2097_2098insG

1 paper

NM_198597.3

p.S710C

c.2129C>G

1 paper

NM_198597.3

p.P700_Q702del3

c.2098_2105del9

1 paper

NM_198597.3

p.F699insFs

c.2095_2096ins5

1 paper

NM_198597.3

p.F699fs

c.2095_2096fs

1 paper

NM_198597.3

p.L698I

c.2092C>A