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.F3916delFs

c.11746_11747delAA

Surrounding Variants

1 paper

NM_206933.4

p.V3917fs

c.11749_11750fs

13 papers

NM_206933.4

p.W3918*

c.11753G>A

13 papers

NM_206933.4

p.W3918*

c.11754G>A

1 paper

NM_206933.4

p.V3917_W3918delFs

c.11750_11753del4

1 paper

NM_206933.4

p.E3912D

c.11736G>T

1 paper

NM_206933.4

p.G3921A

c.11762G>C

1 paper

NM_206933.4

p.E3912D

c.11736G>C

3 papers

NM_206933.4

p.E3912E

c.11736G>A

1 paper

NM_206933.4

p.G3921G

c.11763A>T

1 paper

NM_206933.4

p.E3912K

c.11734G>A

1 paper

NM_206933.4

p.A3922fs

c.11764_11765fs

1 paper

NM_206933.4

p.L3923V

c.11767C>G