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_001142800.2

p.G2780_S2781Fs

c.8338_8342delinsCFs

Surrounding Variants

1 paper

NM_001142800.2

p.G2780R

c.8338G>C

1 paper

NM_001142800.2

p.G2780R

c.8338G>A

2 papers

NM_001142800.2

p.W2783*

c.8348G>A

2 papers

NM_001142800.2

p.W2783*

c.8349G>A

1 paper

NM_001142800.2

p.H2784D

c.8350C>G

1 paper

NM_001142800.2

p.V2776delFs

c.8326delC

2 papers

NM_001142800.2

p.V2791A

c.8372T>C

9 papers

NM_001142800.2

p.L2770P

c.8309T>C

1 paper

NM_001292009.2

p.G2813_A2814insFs

c.8439_8442dup4

1 paper

NM_001292009.2

p.E2815fs

c.8443_8444fs

1 paper

NM_001142800.2

p.T2767insFs

c.8301dupT

1 paper

NM_001142800.2

p.E2794fs

c.8380_8381fs