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

5 papers

NM_206933.4

p.Q748*

c.2242C>T

Surrounding Variants

1 paper

NM_206933.4

p.C747R

c.2239T>C

3 papers

NM_206933.4

p.P746delFs

c.2236_2237delGG

2 papers

NM_206933.4

p.E745_P746delFs

c.2234_2237del4

1 paper

NM_206933.4

p.P746L

c.2237C>T

3 papers

NM_206933.4

p.P746A

c.2236C>G

1 paper

NM_206933.4

p.E745D

c.2235G>T

1 paper

NM_206933.4

p.E745D

c.2235G>C

1 paper

NM_206933.4

p.C744F

c.2231G>T

4 papers

NM_206933.4

p.C744Y

c.2231G>A

1 paper

NM_206933.4

p.N750_L751delFs

c.2249_2253del5

1 paper

NM_206933.4

p.H752R

c.2255A>G

7 papers

NM_206933.4

p.H752H

c.2256T>C