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

1 paper

NM_001292009.2

p.M3053fs

c.9157_9158fs

Surrounding Variants

1 paper

NM_001142800.2

p.M3032T

c.9095T>C

1 paper

NM_001292009.2

p.Y3055C

c.9164A>G

1 paper

NM_001142800.2

p.Y3034insFs

c.9102dupT

1 paper

NM_001292009.2

p.M3053_Y3055delFs

c.9159_9165del7

2 papers

NM_001142800.2

p.N3036fs

c.9106_9107fs

1 paper

NM_001142800.2

p.N3036ins1

c.9106_9107insTAT

2 papers

NM_001142800.2

p.N3036insFs

c.9106_9107ins4

1 paper

NM_001142800.2

p.I3028_S3029insFs

c.9084_9085insA

2 papers

NM_001142800.2

p.I3028insFs

c.9083_9084insA

2 papers

NM_001142800.2

p.R3027_I3028delFs

c.9079_9082del4

1 paper

NM_001142800.2

p.R3027fs

c.9079_9080fs

1 paper

NM_001142800.2

p.G3037_T3038delFs

c.9111_9112delTG