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.P4178L

c.12533C>T

Surrounding Variants

1 paper

NM_206933.4

p.N4180K

c.12540C>G

1 paper

NM_206933.4

p.N4180K

c.12540C>A

4 papers

NM_206933.4

p.W4175C

c.12525G>T

4 papers

NM_206933.4

p.W4175C

c.12525G>C

2 papers

NM_206933.4

p.W4175*

c.12525G>A

2 papers

NM_206933.4

p.W4175*

c.12524G>A

5 papers

NM_206933.4

p.W4175G

c.12523T>G

1 paper

NM_206933.4

p.S4174R

c.12522C>G

1 paper

NM_206933.4

p.S4174R

c.12522C>A

1 paper

NM_206933.4

p.N4182K

c.12546T>G

1 paper

NM_206933.4

p.N4182K

c.12546T>A

1 paper

NM_206933.4

p.S4174R

c.12520A>C