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.K3293E

c.9877A>G

Surrounding Variants

1 paper

NM_206933.4

p.K3293fs

c.9877_9878fs

1 paper

NM_206933.4

p.K3293delFs

c.9878delT

2 papers

NM_206933.4

p.C3294S

c.9880T>A

2 papers

NM_206933.4

p.Q3292*

c.9874C>T

1 paper

NM_206933.4

p.Q3292K

c.9874C>A

4 papers

NM_206933.4

p.H3287_G3291delFs

c.9860_9873del14

2 papers

NM_206933.4

p.C3294S

c.9881G>C

1 paper

NM_206933.4

p.G3291G

c.9873C>A

14 papers

NM_206933.4

p.C3294W

c.9882C>G

6 papers

NM_206933.4

p.G3291S

c.9871G>A

1 paper

NM_206933.4

p.C3295F

c.9884G>T

2 papers

NM_206933.4

p.C3295W

c.9885T>G