Varaico: Literature-Extracted Genetic Variants

EYS

677 papers

RefSeq Summary

The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal ...

Pfam Domains

EGFaa 177–210UCSCEGF-like domain

EGFaa 685–712UCSCEGF-like domain

hEGFaa 742–763UCSCHuman growth factor-like EGF

EGFaa 775–805UCSCEGF-like domain

EGFaa 813–845UCSCEGF-like domain

hEGFaa 899–920UCSCHuman growth factor-like EGF

Gene Aliases

HGNC Name

EGF-like photoreceptor maintenance factor

HGNC Previous Symbols

C6orf180; EGFL11; RP25; EGFL10; C6orf178; C6orf179

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001142800.2

p.N3061fs

c.9181_9182fs

Surrounding Variants

1 paper

NM_001142800.2

p.N3062fs

c.9184_9185fs

1 paper

NM_001142800.2

p.I3060L

c.9178A>T

1 paper

NM_001142800.2

p.I3060L

c.9178A>C

1 paper

NM_001142800.2

p.Y3059*

c.9177C>G

1 paper

NM_001142800.2

p.Y3059*

c.9177C>A

1 paper

NM_001142800.2

p.N3062fs

c.9184_9185fs

4 papers

NM_001142800.2

p.I3060_N3061delFs

c.9178_9181del4

3 papers

NM_001142800.2

p.N3062_S3063delFs

c.9186_9187delTG

1 paper

NM_001142800.2

p.A3058D

c.9173C>A

1 paper

NM_001142800.2

p.I3056fs

c.9166_9167fs

1 paper

NM_001142800.2

p.Q3053_T3054delFs

c.9159_9160delTC

1 paper

NM_001142800.2

p.T3054A

c.9160A>G