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.R3689Q

c.11066G>A

Surrounding Variants

7 papers

NM_206933.4

p.R3689*

c.11065C>T

1 paper

NM_206933.4

p.P3688S

c.11062C>T

1 paper

NM_206933.4

p.T3687A

c.11059A>G

1 paper

NM_206933.4

p.I3692fs

c.11074_11075fs

1 paper

NM_206933.4

p.I3692delFs

c.11074delT

1 paper

NM_206933.4

p.W3685*

c.11055G>A

1 paper

NM_206933.4

p.W3685*

c.11054G>A

3 papers

NM_206933.4

p.W3685R

c.11053T>C

3 papers

NM_206933.4

p.W3685R

c.11053T>A

1 paper

NM_206933.4

p.G3683Splc

c.11048-1G>T

9 papers

NM_206933.4

p.G3683Splc

c.11048-2A>G

1 paper

NM_206933.4

p.T3696I

c.11087C>T