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

2 papers

NM_206933.4

p.R3905P

c.11714G>C

Surrounding Variants

1 paper

NM_206933.4

p.R3905H

c.11714G>A

17 papers

NM_206933.4

p.R3905C

c.11713C>T

1 paper

NM_206933.4

p.R3905fs

c.11713_11714fs

2 papers

NM_206933.4

p.R3904K

c.11711G>A

8 papers

NM_206933.4

p.R3904Splc

c.11712-2A>C

1 paper

NM_206933.4

p.I3909T

c.11726T>C

1 paper

NM_206933.4

p.E3912K

c.11734G>A

1 paper

NM_206933.4

p.E3912D

c.11736G>T

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.F3916delFs

c.11746_11747delAA

1 paper

NM_206933.4

p.V3917fs

c.11749_11750fs