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.A1465_D1468insFs

c.4395_4402dup8

Surrounding Variants

1 paper

NM_001142800.2

p.D1468G

c.4403A>G

1 paper

NM_001142800.2

p.D1468fs

c.4402_4403fs

9 papers

NM_001142800.2

p.D1468H

c.4402G>C

1 paper

NM_001142800.2

p.E1470fs

c.4408_4409fs

2 papers

NM_001142800.2

p.E1470delFs

c.4408delC

1 paper

NM_001142800.2

p.A1465fs

c.4393_4394fs

1 paper

NM_001142800.2

p.A1465insFs

c.4393_4394insG

1 paper

NM_001142800.2

p.G1464_A1465delFs

c.4392_4393delCC

1 paper

NM_001142800.2

p.A1465fs

c.4393_4394fs

1 paper

NM_001142800.2

p.R1463delFs

c.4387delT

1 paper

NM_001142800.2

p.R1463fs

c.4387_4388fs

1 paper

NM_001142800.2

p.S1473_A1474Fs

c.4417_4420delinsGCCTACAAFs