Varaico: Literature-Extracted Genetic Variants

SEH1L

35 papers

RefSeq Summary

The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. A...

Pfam Domains

WD40aa 5–40UCSCWD domain, G-beta repeat

WD40aa 47–87UCSCWD domain, G-beta repeat

WD40aa 103–143UCSCWD domain, G-beta repeat

WD40aa 269–306UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

SEH1 like nucleoporin

HGNC Alias Symbols

SEH1A; SEH1B; Seh1; SEC13L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001013437.2

p.W103C

c.309G>C

Surrounding Variants

1 paper

NM_001013437.2

p.W103C

c.309G>T

1 paper

NM_001013437.2

p.R98Q

c.293G>A

1 paper

NM_001013437.2

p.V60V

c.180A>G

3 papers

NM_001013437.2

p.D46N

c.136G>A

1 paper

NM_001013437.2

p.D17G

c.50A>G

1 paper

NM_001013437.2

p.R5P

c.14G>C

1 paper

NM_001013437.2

p.L109L

c.327G>A

1 paper

NM_001013437.2

p.G127delFs

c.379_380delGG

1 paper

NM_001013437.2

p.M129T

c.386T>C

1 paper

NM_001013437.2

p.I159F

c.475A>T