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.D741N

c.2221G>A

Surrounding Variants

1 paper

NM_206933.4

p.D741Y

c.2221G>T

1 paper

NM_206933.4

p.D741H

c.2221G>C

1 paper

NM_206933.4

p.D741E

c.2223T>G

1 paper

NM_206933.4

p.D741E

c.2223T>A

1 paper

NM_206933.4

p.N740S

c.2219A>G

3 papers

NM_206933.4

p.V742L

c.2224G>C

1 paper

NM_206933.4

p.N740Y

c.2218A>T

4 papers

NM_206933.4

p.F739L

c.2217T>G

3 papers

NM_206933.4

p.V742A

c.2225T>C

4 papers

NM_206933.4

p.F739L

c.2217T>A

1 paper

NM_206933.4

p.F739C

c.2216T>G

4 papers

NM_206933.4

p.F739L

c.2215T>C