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

43 papers

NM_206933.4

p.L1572F

c.4714C>T

Surrounding Variants

4 papers

NM_206933.4

p.A1571P

c.4711G>C

1 paper

NM_206933.4

p.F1570delFs

c.4710delA

4 papers

NM_206933.4

p.Q1573*

c.4717C>T

1 paper

NM_206933.4

p.Q1573E

c.4717C>G

1 paper

NM_206933.4

p.F1570L

c.4710T>G

1 paper

NM_206933.4

p.F1570L

c.4710T>A

1 paper

NM_206933.4

p.F1570L

c.4708T>C

1 paper

NM_206933.4

p.F1570fs

c.4708_4709fs

5 papers

NM_206933.4

p.Y1569*

c.4707T>G

1 paper

NM_206933.4

p.L1574W

c.4721T>G

4 papers

NM_206933.4

p.Y1569*

c.4707T>A

2 papers

NM_206933.4

p.K1575*

c.4723A>T