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.A68T

c.202G>A

Surrounding Variants

1 paper

NM_198597.3

p.A74P

c.220G>C

1 paper

NM_198597.3

p.G87R

c.259G>C

1 paper

NM_198597.3

p.Q102L

c.305A>T

1 paper

NM_198597.3

p.P47R

c.140C>G

1 paper

NM_198597.3

p.G42_A43ins6

c.126_127ins18

1 paper

NM_198597.3

p.P40S

c.118C>T

1 paper

NM_198597.3

p.Y28Y

c.84T>C

2 papers

NM_198597.3

p.Y23F

c.68A>T

1 paper

NM_198597.3

p.V3L

c.7G>C

1 paper

NM_198597.3

p.S107F

c.320C>T

1 paper

NM_198597.3

p.G111delFs

c.333delG

1 paper

NM_198597.3

p.G111R

c.331G>A