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.T1297fs

c.3889_3890fs

Surrounding Variants

1 paper

NM_001142800.2

p.T1297delFs

c.3890delG

6 papers

NM_001142800.2

p.H1302H

c.3906C>T

4 papers

NM_001142800.2

p.H1302Q

c.3906C>G

4 papers

NM_001142800.2

p.H1302Q

c.3906C>A

1 paper

NM_001142800.2

p.T1308A

c.3922A>G

6 papers

NM_001142800.2

p.T1312T

c.3936A>G

1 paper

NM_001142800.2

p.L1313*

c.3938T>G

1 paper

NM_001142800.2

p.L1313*

c.3938T>A

1 paper

NM_001142800.2

p.S1321G

c.3961A>G

9 papers

NM_001142800.2

p.Q1325E

c.3973C>G

1 paper

NM_001142800.2

p.V1329_T1330insA

c.3985_3989ins3

1 paper

NM_001142800.2

p.H1337fs

c.4009_4010fs