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

19 papers

NM_001142800.2

p.L2671*

c.8012T>G

Surrounding Variants

20 papers

NM_001142800.2

p.L2671*

c.8012T>A

4 papers

NM_001142800.2

p.C2668F

c.8003G>T

1 paper

NM_001142800.2

p.G2665E

c.7994G>A

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.R2664T

c.7991G>C

1 paper

NM_001142800.2

p.S2663R

c.7987A>C

1 paper

NM_001142800.2

p.L2681insFs

c.8043dupA

1 paper

NM_001142800.2

p.G2682fs

c.8044_8045fs

1 paper

NM_001142800.2

p.T2683I

c.8048C>T

2 papers

NM_001142800.2

p.T2684P

c.8050A>C

5 papers

NM_001142800.2

p.G2685E

c.8054G>A