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.I2642V

c.7924A>G

Surrounding Variants

1 paper

NM_206933.4

p.S2643fs

c.7927_7928fs

1 paper

NM_206933.4

p.S2643delFs

c.7927delA

2 papers

NM_206933.4

p.V2640E

c.7919T>A

15 papers

NM_206933.4

p.W2644*

c.7931G>A

15 papers

NM_206933.4

p.W2644*

c.7932G>A

1 paper

NM_206933.4

p.S2639Y

c.7916C>A

11 papers

NM_206933.4

p.S2639P

c.7915T>C

1 paper

NM_206933.4

p.P2646insFs

c.7936_7937insAC

1 paper

NM_206933.4

p.P2647fs

c.7939_7940fs

4 papers

NM_206933.4

p.P2647S

c.7939C>T

1 paper

NM_206933.4

p.P2647P

c.7941T>G

1 paper

NM_206933.4

p.P2647delFs

c.7940delG