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.Q459insFs

c.1375dupC

Surrounding Variants

1 paper

NM_198597.3

p.F486L

c.1456T>C

1 paper

NM_198597.3

p.F486L

c.1458C>A

1 paper

NM_198597.3

p.F486L

c.1458C>G

1 paper

NM_198597.3

p.F449I

c.1345T>A

1 paper

NM_198597.3

p.M432I

c.1296G>A

1 paper

NM_198597.3

p.M432I

c.1296G>C

1 paper

NM_198597.3

p.M432I

c.1296G>T

1 paper

NM_198597.3

p.N496D

c.1486A>G

2 papers

NM_198597.3

p.S500R

c.1498A>C

2 papers

NM_198597.3

p.S500R

c.1500C>A

2 papers

NM_198597.3

p.S500R

c.1500C>G

1 paper

NM_198597.3

p.V510I

c.1528G>A