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

11 papers

NM_206933.4

p.K4098_T4099Splc

c.12295-3T>A

Surrounding Variants

1 paper

NM_206933.4

p.K4098_T4099Splc

c.12295-3T>C

3 papers

NM_206933.4

p.K4098_T4099Splc

c.12295-2A>G

2 papers

NM_206933.4

p.K4098_T4099Splc

c.12295-1G>A

1 paper

NM_206933.4

p.T4099P

c.12295A>C

1 paper

NM_206933.4

p.T4099fs

c.12295_12296fs

1 paper

NM_206933.4

p.Y4100N

c.12298T>A

3 papers

NM_206933.4

p.I4102N

c.12305T>A

3 papers

NM_206933.4

p.N4101del1

c.12301_12302delGTT

1 paper

NM_206933.4

p.S4104C

c.12310A>T

1 paper

NM_206933.4

p.D4105fs

c.12313_12314fs

1 paper

NM_206933.4

p.D4105D

c.12315C>T

1 paper

NM_206933.4

p.G4106R

c.12316G>C