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.R3719C

c.11155C>T

Surrounding Variants

4 papers

NM_206933.4

p.R3719L

c.11156G>T

77 papers

NM_206933.4

p.R3719H

c.11156G>A

3 papers

NM_206933.4

p.Q3716*

c.11146C>T

1 paper

NM_206933.4

p.Q3716K

c.11146C>A

3 papers

NM_206933.4

p.Y3715*

c.11145T>G

3 papers

NM_206933.4

p.Y3715*

c.11145T>A

1 paper

NM_206933.4

p.Q3714Q

c.11142A>G

3 papers

NM_206933.4

p.Q3714fs

c.11140_11141fs

3 papers

NM_206933.4

p.Q3714*

c.11140C>T

3 papers

NM_206933.4

p.V3712_S3713delFs

c.11136_11137delAA

1 paper

NM_206933.4

p.L3723_L3724delFs

c.11169_11172del4

1 paper

NM_206933.4

p.F3725F

c.11175C>T