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

6 papers

NM_001142800.2

p.F2954L

c.8862T>A

Surrounding Variants

6 papers

NM_001142800.2

p.F2954L

c.8862T>G

7 papers

NM_001142800.2

p.F2954S

c.8861T>C

6 papers

NM_001142800.2

p.F2954L

c.8860T>C

1 paper

NM_001142800.2

p.T2956delFs

c.8868delA

1 paper

NM_001142800.2

p.T2952delFs

c.8854delT

1 paper

NM_001142800.2

p.F2959delFs

c.8875_8876delAA

1 paper

NM_001292009.2

p.C2969W

c.8907T>G

4 papers

NM_001142800.2

p.C2948R

c.8842T>C

4 papers

NM_001142800.2

p.S2953_G2961del9

c.8857_8882del27

10 papers

NM_001142800.2

p.G2945E

c.8834G>A

NM_001292009.2

p.G2966E

c.8897G>A

1 paper

NM_001142800.2

p.I2965delFs

c.8893delT

1 paper

NM_001142800.2

p.V2944fs

c.8830_8831fs