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

25 papers

NM_001142800.2

p.W2640*

c.7919G>A

Surrounding Variants

23 papers

NM_001142800.2

p.W2640*

c.7920G>A

1 paper

NM_001142800.2

p.C2636Y

c.7907G>A

1 paper

NM_001142800.2

p.E2647fs

c.7939_7940fs

3 papers

NM_001142800.2

p.T2648fs

c.7942_7943fs

2 papers

NM_001142800.2

p.E2647_T2648delFs

c.7941_7942delTC

4 papers

NM_001142800.2

p.T2648delFs

c.7943delG

1 paper

NM_001142800.2

p.Y2633Splc

c.7899-8A>G

4 papers

NM_001142800.2

p.S2650F

c.7949C>T

2 papers

NM_001142800.2

p.C2652fs

c.7954_7955fs

2 papers

NM_001142800.2

p.C2652delFs

c.7955delC

1 paper

NM_001142800.2

p.E2655Q

c.7963G>C

1 paper

NM_001142800.2

p.S2663R

c.7987A>C