Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.L14V

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_052995.2
p.L14V
c.40C>G
Surrounding Variants
1 paper
NM_174878.3
p.L90P
c.269T>C
1 paper
NM_174878.3
p.A92T
c.274G>A
1 paper
NM_174878.3
p.F85fs
c.253_254fs
3 papers
NM_174878.3
p.F85Splc
c.254-1G>A
1 paper
NM_174878.3
p.S96T
c.287G>C
1 paper
NM_174878.3
p.I97N
c.290T>A
1 paper
NM_174878.3
p.H98R
c.293A>G
1 paper
NM_174878.3
p.V99_N100insT
c.295_299ins3
5 papers
NM_174878.3
p.N100K
c.300T>G
1 paper
NM_174878.3
p.N100delFs
c.299_300delAT
3 papers
NM_174878.3
p.V101fs
c.301_302fs
1 paper
NM_174878.3
p.V101D
c.302T>A
NM_001256819.2
p.C158*
c.474T>A
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