Varaico: Literature-Extracted Genetic Variants

USH2A

1,687 papers

RefSeq Summary

This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in developmen...

Pfam Domains

Laminin_G_3aa 130–286UCSCConcanavalin A-like lectin/glucanases superfamily

Laminin_Naa 293–516UCSCLaminin N-terminal (Domain VI)

EGF_lamininaa 518–566UCSCLaminin EGF domain

EGF_lamininaa 575–634UCSCLaminin EGF domain

EGF_lamininaa 641–691UCSCLaminin EGF domain

EGF_lamininaa 694–744UCSCLaminin EGF domain

Gene Aliases

HGNC Name

usherin

HGNC Previous Symbol

USH2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_206933.4

p.L537F

c.1609C>T

Surrounding Variants

2 papers

NM_206933.4

p.C536C

c.1608C>T

3 papers

NM_206933.4

p.C536*

c.1608C>A

3 papers

NM_206933.4

p.C536S

c.1607G>C

1 paper

NM_206933.4

p.L537L

c.1611C>T

50 papers

NM_206933.4

p.C536R

c.1606T>C

1 paper

NM_206933.4

p.C538R

c.1612T>C

4 papers

NM_206933.4

p.C536S

c.1606T>A

2 papers

NM_206933.4

p.C538Y

c.1613G>A

1 paper

NM_206933.4

p.R535S

c.1605A>T

4 papers

NM_206933.4

p.R535T

c.1604G>C

1 paper

NM_206933.4

p.L537_C538delFs

c.1610_1613del4

1 paper

NM_206933.4

p.S539A

c.1615T>G