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.Q1603E

c.4807C>G

Surrounding Variants

1 paper

NM_001142800.2

p.Q1603*

c.4807C>T

1 paper

NM_001142800.2

p.I1605_T1606Fs

c.4815_4816delinsATAGFs

1 paper

NM_001142800.2

p.G1608W

c.4822G>T

2 papers

NM_001142800.2

p.W1596L

c.4787G>T

5 papers

NM_001142800.2

p.S1610fs

c.4828_4829fs

8 papers

NM_001142800.2

p.S1610_F1611delFs

c.4829_4832del4

1 paper

NM_001142800.2

p.A1594S

c.4780G>T

1 paper

NM_001142800.2

p.L1593V

c.4777T>G

1 paper

NM_001142800.2

p.E1616K

c.4846G>A

1 paper

NM_001142800.2

p.I1617L

c.4849A>T

1 paper

NM_001142800.2

p.I1617L

c.4849A>C

2 papers

NM_001142800.2

p.W1587*

c.4761G>A