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.I3127fs

c.9379_9380fs

Surrounding Variants

1 paper

NM_001292009.2

p.E3146_L3147delFs

c.9437_9440del4

3 papers

NM_001142800.2

p.K3128fs

c.9382_9383fs

1 paper

NM_001292009.2

p.E3146fs

c.9436_9437fs

1 paper

NM_001292009.2

p.K3149fs

c.9445_9446fs

1 paper

NM_001142800.2

p.I3127_K3128delFs

c.9380_9383del4

5 papers

NM_001142800.2

p.K3128_L3129delFs

c.9383_9387del5

NM_001292009.2

p.K3149_L3150delFs

c.9446_9450del5

2 papers

NM_001142800.2

p.N3123fs

c.9367_9368fs

6 papers

NM_001142800.2

p.N3123insFs

c.9368dupA

5 papers

NM_001142800.2

p.N3123delFs

c.9368delT

1 paper

NM_001142800.2

p.K3122delFs

c.9365_9366delTT

1 paper

NM_001142800.2

p.N3123T

c.9368A>C

6 papers

NM_001142800.2

p.N3123fs

c.9367_9368fs