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

43 papers

NM_206933.4

p.G614Splc

c.1841-2A>G

Surrounding Variants

1 paper

NM_206933.4

p.G614*

c.1840G>T

4 papers

NM_206933.4

p.G614R

c.1840G>C

4 papers

NM_206933.4

p.G614R

c.1840G>A

3 papers

NM_206933.4

p.G614V

c.1841G>T

1 paper

NM_206933.4

p.G614E

c.1841G>A

4 papers

NM_206933.4

p.G614fs

c.1840_1841fs

1 paper

NM_206933.4

p.R615K

c.1844G>A

1 paper

NM_206933.4

p.R615S

c.1845G>T

1 paper

NM_206933.4

p.R615S

c.1845G>C

1 paper

NM_206933.4

p.C617S

c.1849T>A

1 paper

NM_206933.4

p.C617F

c.1850G>T

1 paper

NM_206933.4

p.C617S

c.1850G>C