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.Q2554*

c.7660C>T

Surrounding Variants

2 papers

NM_206933.4

p.M2549_Q2554delFs

c.7645_7661del17

1 paper

NM_206933.4

p.W2553_Q2554ins4

c.7657_7661ins12

1 paper

NM_206933.4

p.L2550S

c.7649T>C

1 paper

NM_206933.4

p.R2547_M2549delFs

c.7641_7645del5

1 paper

NM_206933.4

p.M2549fs

c.7645_7646fs

1 paper

NM_206933.4

p.M2548K

c.7643T>A

3 papers

NM_206933.4

p.N2560S

c.7679A>G

1 paper

NM_206933.4

p.D2543_S2546delFs

c.7629_7638del10

1 paper

NM_206933.4

p.G2561G

c.7683G>A

1 paper

NM_206933.4

p.V2562F

c.7684G>T

17 papers

NM_206933.4

p.V2562A

c.7685T>C

1 paper

NM_206933.4

p.K2545*

c.7633A>T