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.S2835P

c.8503T>C

Surrounding Variants

1 paper

NM_206933.4

p.E2834D

c.8502A>T

1 paper

NM_206933.4

p.E2834D

c.8502A>C

2 papers

NM_206933.4

p.S2833insFs

c.8497dupA

2 papers

NM_206933.4

p.S2833fs

c.8497_8498fs

1 paper

NM_206933.4

p.I2830T

c.8489T>C

1 paper

NM_206933.4

p.V2838_I2839del2

c.8512_8516del6

2 papers

NM_206933.4

p.S2828_V2829delFs

c.8483_8486del4

1 paper

NM_206933.4

p.V2829A

c.8486T>C

1 paper

NM_206933.4

p.W2841G

c.8521T>G

2 papers

NM_206933.4

p.W2841R

c.8521T>C

2 papers

NM_206933.4

p.W2841R

c.8521T>A

5 papers

NM_206933.4

p.S2828fs

c.8482_8483fs