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.C2890Y

c.8669G>A

Surrounding Variants

15 papers

NM_001142800.2

p.T2883_R2885delFs

c.8648_8655del8

1 paper

NM_001142800.2

p.T2883_R2885delFs

c.8648_8654del7

1 paper

NM_001142800.2

p.C2884Y

c.8651G>A

1 paper

NM_001292009.2

p.C2905G

c.8713T>G

1 paper

NM_001142800.2

p.C2884R

c.8650T>C

1 paper

NM_001142800.2

p.T2883delFs

c.8648_8649delTG

10 papers

NM_001142800.2

p.T2883fs

c.8647_8648fs

1 paper

NM_001292009.2

p.C2920S

c.8758T>A

1 paper

NM_001142800.2

p.C2899fs

c.8695_8696fs

1 paper

NM_001292009.2

p.C2920S

c.8759G>C

1 paper

NM_001142800.2

p.C2899delFs

c.8695delA

1 paper

NM_001142800.2

p.C2879Y

c.8636G>A