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.G3110D

c.9329G>A

Surrounding Variants

1 paper

NM_001292009.2

p.G3131A

c.9392G>C

2 papers

NM_001142800.2

p.K3113*

c.9337A>T

5 papers

NM_001142800.2

p.T3106_I3112delFs

c.9317_9336del20

3 papers

NM_001142800.2

p.K3113fs

c.9337_9338fs

1 paper

NM_001142800.2

p.K3113R

c.9338A>G

2 papers

NM_001142800.2

p.D3114H

c.9340G>C

2 papers

NM_001292009.2

p.D3135E

c.9405T>A

4 papers

NM_001142800.2

p.T3106fs

c.9316_9317fs

2 papers

NM_001142800.2

p.V3115D

c.9344T>A

3 papers

NM_001142800.2

p.K3113_F3117delFs

c.9337_9350del14

1 paper

NM_001292009.2

p.E3123insFs

c.9368dupA

1 paper

NM_001142800.2

p.T3100_Q3101delFs

c.9299_9303del5