Varaico: Literature-Extracted Genetic Variants

SEC13

42 papers

RefSeq Summary

The protein encoded by this gene belongs to the SEC13 family of WD-repeat proteins. It is a constituent of the endoplasmic reticulum and the nuclear pore complex. It has similarity to the yeast SEC13 ...

Pfam Domains

WD40aa 4–41UCSCWD domain, G-beta repeat

WD40aa 47–87UCSCWD domain, G-beta repeat

WD40aa 93–131UCSCWD domain, G-beta repeat

WD40aa 202–244UCSCWD domain, G-beta repeat

WD40aa 255–290UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

SEC13 homolog, nuclear pore and COPII component

HGNC Previous Symbols

D3S1231E; SEC13L1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_183352.3

p.E13G

c.38A>G

Surrounding Variants

1 paper

NM_183352.3

p.H17H

c.51C>T

2 papers

NM_183352.3

p.R27H

c.80G>A

1 paper

NM_183352.3

p.P59A

c.175C>G

1 paper

NM_183352.3

p.M69T

c.206T>C

1 paper

NM_183352.3

p.Y70Y

c.210C>T

1 paper

NM_183352.3

p.N72fs

c.214_215fs

1 paper

NM_183352.3

p.I73I

c.219C>T

1 paper

NM_183352.3

p.I85T

c.254T>C

1 paper

NM_183352.3

p.N90_G91del1

c.270_272delCCG

1 paper

NM_183352.3

p.N90_G91del2

c.268_272del6

1 paper

NM_183352.3

p.S96N

c.287G>A

1 paper

NM_183352.3

p.A100V

c.299C>T