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.H2133N

c.6397C>A

Surrounding Variants

1 paper

NM_001142800.2

p.L2132P

c.6395T>C

1 paper

NM_001142800.2

p.C2130S

c.6389G>C

1 paper

NM_001142800.2

p.C2130S

c.6388T>A

3 papers

NM_001142800.2

p.R2137H

c.6410G>A

3 papers

NM_001142800.2

p.C2139R

c.6415T>C

59 papers

NM_001142800.2

p.C2139Y

c.6416G>A

1 paper

NM_001142800.2

p.C2139W

c.6417T>G

1 paper

NM_001142800.2

p.D2142Splc

c.6424+1G>T

1 paper

NM_001142800.2

p.D2142Splc

c.6424+1G>A

1 paper

NM_001142800.2

p.S2120P

c.6358T>C

1 paper

NM_001142800.2

p.H2115P

c.6344A>C

1 paper

NM_001142800.2

p.C2108*

c.6324C>A