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.E541E

c.1623G>A

Surrounding Variants

1 paper

NM_206933.4

p.S542G

c.1624A>G

1 paper

NM_206933.4

p.S542R

c.1624A>C

1 paper

NM_206933.4

p.S542R

c.1626C>G

1 paper

NM_206933.4

p.S542R

c.1626C>A

1 paper

NM_206933.4

p.F543Y

c.1628T>A

4 papers

NM_206933.4

p.Q540*

c.1618C>T

1 paper

NM_206933.4

p.F543fs

c.1627_1628fs

1 paper

NM_206933.4

p.S539F

c.1616C>T

1 paper

NM_206933.4

p.S539delFs

c.1615delA

1 paper

NM_206933.4

p.T544S

c.1630A>T

1 paper

NM_206933.4

p.S539A

c.1615T>G

1 paper

NM_206933.4

p.S539P

c.1615T>C