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.P2903S

c.8707C>T

Surrounding Variants

1 paper

NM_001142800.2

p.L2902S

c.8705T>C

1 paper

NM_001142800.2

p.D2904N

c.8710G>A

1 paper

NM_001142800.2

p.D2904D

c.8712T>C

1 paper

NM_001142800.2

p.D2904_A2906delFs

c.8710_8717del8

1 paper

NM_001292009.2

p.C2920S

c.8759G>C

1 paper

NM_001142800.2

p.C2899delFs

c.8695delA

1 paper

NM_001292009.2

p.C2920S

c.8758T>A

1 paper

NM_001142800.2

p.D2904_A2906delFs

c.8711_8718del8

1 paper

NM_001142800.2

p.C2899fs

c.8695_8696fs

2 papers

NM_001142800.2

p.G2907E

c.8720G>A

1 paper

NM_001142800.2

p.C2910_N2911del2

c.8728_8732del6

2 papers

NM_001142800.2

p.C2890Y

c.8669G>A