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.K1575N

c.4725G>T

Surrounding Variants

1 paper

NM_206933.4

p.K1575N

c.4725G>C

2 papers

NM_206933.4

p.K1575*

c.4723A>T

1 paper

NM_206933.4

p.K1575E

c.4723A>G

1 paper

NM_206933.4

p.K1576N

c.4728G>T

1 paper

NM_206933.4

p.K1576N

c.4728G>C

1 paper

NM_206933.4

p.L1574W

c.4721T>G

1 paper

NM_206933.4

p.G1577R

c.4729G>C

1 paper

NM_206933.4

p.G1577R

c.4729G>A

1 paper

NM_206933.4

p.G1577E

c.4730G>A

22 papers

NM_206933.4

p.R1578C

c.4732C>T

1 paper

NM_206933.4

p.R1578L

c.4733G>T

2 papers

NM_206933.4

p.R1578H

c.4733G>A