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.T252T

c.756G>A

Surrounding Variants

1 paper

NM_183352.3

p.K256R

c.767A>G

1 paper

NM_183352.3

p.K260R

c.779A>G

1 paper

NM_183352.3

p.R239H

c.716G>A

1 paper

NM_183352.3

p.W266*

c.797G>A

1 paper

NM_183352.3

p.W266*

c.798G>A

1 paper

NM_183352.3

p.W270_I272del3

c.808_815del9

1 paper

NM_183352.3

p.T273I

c.818C>T

2 papers

NM_001136232.3

p.I217V

c.649A>G

1 paper

NM_183352.3

p.G225D

c.674G>A

1 paper

NM_183352.3

p.H211L

c.632A>T

1 paper

NM_183352.3

p.E197V

c.590A>T

1 paper

NM_183352.3

p.L190F

c.568C>T