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

3 papers

NM_001142800.2

p.L3079V

c.9235C>G

Surrounding Variants

1 paper

NM_001142800.2

p.L3079L

c.9237A>G

1 paper

NM_001142800.2

p.N3080S

c.9239A>G

3 papers

NM_001142800.2

p.G3083D

c.9248G>A

1 paper

NM_001142800.2

p.G3083_I3084delFs

c.9249_9250delTG

1 paper

NM_001142800.2

p.I3084_C3085insFs

c.9252_9253insT

5 papers

NM_001142800.2

p.I3070T

c.9209T>C

2 papers

NM_001142800.2

p.G3088E

c.9263G>A

2 papers

NM_001142800.2

p.G3093insFs

c.9277_9278dupGG

1 paper

NM_001142800.2

p.R3094fs

c.9280_9281fs

3 papers

NM_001142800.2

p.N3062_S3063delFs

c.9186_9187delTG

1 paper

NM_001142800.2

p.N3062fs

c.9184_9185fs

4 papers

NM_001142800.2

p.I3060_N3061delFs

c.9178_9181del4