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.S2663R

c.7987A>C

Surrounding Variants

1 paper

NM_001142800.2

p.R2664T

c.7991G>C

1 paper

NM_001142800.2

p.G2665R

c.7993G>C

1 paper

NM_001142800.2

p.G2665R

c.7993G>A

1 paper

NM_001142800.2

p.G2665E

c.7994G>A

4 papers

NM_001142800.2

p.C2668F

c.8003G>T

1 paper

NM_001142800.2

p.E2655Q

c.7963G>C

19 papers

NM_001142800.2

p.L2671*

c.8012T>G

20 papers

NM_001142800.2

p.L2671*

c.8012T>A

2 papers

NM_001142800.2

p.C2652delFs

c.7955delC

2 papers

NM_001142800.2

p.C2652fs

c.7954_7955fs

4 papers

NM_001142800.2

p.S2650F

c.7949C>T

4 papers

NM_001142800.2

p.T2648delFs

c.7943delG