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.G111R

c.331G>C

Surrounding Variants

1 paper

NM_198597.3

p.G111R

c.331G>A

1 paper

NM_198597.3

p.G111delFs

c.333delG

1 paper

NM_198597.3

p.S112fs

c.334_335fs

1 paper

NM_198597.3

p.S112fs

c.334_335fs

1 paper

NM_198597.3

p.S107F

c.320C>T

1 paper

NM_198597.3

p.G147D

c.440G>A

1 paper

NM_198597.3

p.P154A

c.460C>G

1 paper

NM_198597.3

p.S155_S156del1

c.465_467delTTC

1 paper

NM_198597.3

p.S156del1

c.466_467delTCA

1 paper

NM_198597.3

p.S156P

c.466T>C

1 paper

NM_198597.3

p.T164I

c.491C>T

1 paper

NM_198597.3

p.G220C

c.658G>T