Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.T112I

CLRN1

261 papers

RefSeq Summary

This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded p...

Pfam Domains

Clarin-2aa 5–206UCSCClarin-2-like

Gene Aliases

HGNC Name

clarin 1

HGNC Previous Symbols

USH3; USH3A; RP61

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_174878.3
p.T112I
c.335C>T
Surrounding Variants
1 paper
NM_174878.3
p.A106_L111del6
c.316_332del18
1 paper
NM_174878.3
p.V114fs
c.340_341fs
1 paper
NM_174878.3
p.V114G
c.341T>G
1 paper
NM_174878.3
p.V114delFs
c.341delA
3 papers
NM_174878.3
p.L108P
c.323T>C
8 papers
NM_174878.3
p.S105P
c.313T>C
15 papers
NM_174878.3
p.M120K
c.359T>A
2 papers
NM_174878.3
p.Y121C
c.362A>G
8 papers
NM_174878.3
p.V101_I102delFs
c.301_305del5
1 paper
NM_174878.3
p.V101D
c.302T>A
NM_001256819.2
p.C158*
c.474T>A
1 paper
NM_174878.3
p.A123V
c.368C>T
7 papers
NM_174878.3
p.A123D
c.368C>A
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