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.R303T

c.908G>C

Surrounding Variants

1 paper

NM_001013437.2

p.W305*

c.914G>A

1 paper

NM_001013437.2

p.W305*

c.915G>A

1 paper

NM_001013437.2

p.A307S

c.919G>T

1 paper

NM_001013437.2

p.V281A

c.842T>C

1 paper

NM_001013437.2

p.P263Q

c.788C>A

1 paper

NM_001013437.2

p.T258P

c.772A>C

3 papers

NM_001013437.2

p.T342N

c.1025C>A

1 paper

NM_001013437.2

p.T219I

c.656C>T

1 paper

NM_001013437.2

p.F360_T361delFs

c.1079_1083del5

1 paper

NM_001013437.2

p.L379_P380del2

c.1135_1139del6

3 papers

NM_001013437.2

p.P385_L386del1

c.1154_1156delCTC