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

5 papers

NM_001142800.2

p.V2826_S2827del2

c.8476_8480del6

Surrounding Variants

1 paper

NM_001142800.2

p.G2825insFs

c.8473_8474insT

2 papers

NM_001142800.2

p.L2831_V2832del2

c.8491_8495del6

1 paper

NM_001142800.2

p.Y2822C

c.8465A>G

1 paper

NM_001142800.2

p.T2819fs

c.8455_8456fs

3 papers

NM_001142800.2

p.T2819delFs

c.8455delT

1 paper

NM_001142800.2

p.I2837T

c.8510T>C

2 papers

NM_001142800.2

p.N2839fs

c.8515_8516fs

2 papers

NM_001142800.2

p.N2839insFs

c.8516dupA

1 paper

NM_001142800.2

p.S2809_K2811del0

c.8427_8432del6

3 papers

NM_001142800.2

p.T2810I

c.8429C>T

1 paper

NM_001142800.2

p.A2808S

c.8422G>T

8 papers

NM_001142800.2

p.A2808T

c.8422G>A