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.L2994_I2995delFs

c.8982_8985del4

Surrounding Variants

5 papers

NM_001142800.2

p.I2995N

c.8984T>A

1 paper

NM_001292009.2

p.W3018R

c.9052T>C

1 paper

NM_001292009.2

p.W3018R

c.9052T>A

2 papers

NM_001142800.2

p.I2995fs

c.8983_8984fs

1 paper

NM_001142800.2

p.L2994Q

c.8981T>A

1 paper

NM_001142800.2

p.W2997*

c.8991G>A

1 paper

NM_001142800.2

p.M2998R

c.8993T>G

1 paper

NM_001142800.2

p.E2992_G2993del1

c.8975_8977delCTT

1 paper

NM_001142800.2

p.T2991delFs

c.8971delT

1 paper

NM_001142800.2

p.A3001V

c.9002C>T

1 paper

NM_001142800.2

p.Q3002*

c.9004C>T

1 paper

NM_001142800.2

p.T2988I

c.8963C>T