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

3 papers

NM_206933.4

p.T281P

c.841A>C

Surrounding Variants

1 paper

NM_206933.4

p.T281A

c.841A>G

5 papers

NM_206933.4

p.T281I

c.842C>T

9 papers

NM_206933.4

p.T281K

c.842C>A

3 papers

NM_206933.4

p.L280R

c.839T>G

2 papers

NM_206933.4

p.T281T

c.843A>G

4 papers

NM_206933.4

p.L280F

c.838C>T

1 paper

NM_206933.4

p.A279P

c.835G>C

1 paper

NM_206933.4

p.A279T

c.835G>A

1 paper

NM_206933.4

p.V278V

c.834G>A

1 paper

NM_206933.4

p.V278A

c.833T>C

1 paper

NM_206933.4

p.R283Splc

c.848+1G>T

1 paper

NM_206933.4

p.R283Splc

c.848+1G>C