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.P301L

c.902C>T

Surrounding Variants

1 paper

NM_198597.3

p.G298D

c.893G>A

1 paper

NM_198597.3

p.G297R

c.889G>A

1 paper

NM_198597.3

p.G297R

c.889G>C

1 paper

NM_198597.3

p.G307R

c.919G>C

1 paper

NM_198597.3

p.P327L

c.980C>T

1 paper

NM_198597.3

p.P263H

c.788C>A

1 paper

NM_198597.3

p.T261insFs

c.782_783ins13

1 paper

NM_198597.3

p.P255S

c.763C>T

1 paper

NM_198597.3

p.S249L

c.746C>T

1 paper

NM_198597.3

p.P244S

c.730C>T

1 paper

NM_198597.3

p.S235delFs

c.704delG

1 paper

NM_198597.3

p.Q234del1

c.700_702delCAG