Varaico: Literature-Extracted Genetic Variants

Gene:SEC24D
Variant:p.T9A

SEC24D

126 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 360–398UCSCSec23/Sec24 zinc finger
Sec23_trunkaa 437–681UCSCSec23/Sec24 trunk domain
Sec23_BSaa 686–770UCSCSec23/Sec24 beta-sandwich domain
Sec23_helicalaa 781–883UCSCSec23/Sec24 helical domain
Gelsolinaa 899–974UCSCGelsolin repeat

Gene Aliases

HGNC Name

SEC24 homolog D, COPII component

HGNC Alias Symbol

KIAA0755

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014822.4
p.T9A
c.25A>G
Surrounding Variants
1 paper
NM_014822.4
p.A8V
c.23C>T
1 paper
NM_014822.4
p.G5D
c.14G>A
1 paper
NM_014822.4
p.S13S
c.39T>A
1 paper
NM_014822.4
p.Q4P
c.11A>C
1 paper
NM_014822.4
p.Q3K
c.7C>A
1 paper
NM_014822.4
p.S2delFs
c.4delT
1 paper
NM_014822.4
p.M1T
c.2T>C
1 paper
NM_014822.4
p.M1V
c.1A>G
1 paper
NM_014822.4
p.G20G
c.60C>T
1 paper
NM_014822.4
p.P24H
c.71C>A
1 paper
NM_014822.4
p.H25Y
c.73C>T
1 paper
NM_014822.4
p.G27W
c.79G>T
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