Varaico: Literature-Extracted Genetic Variants

Gene:CLRN1
Variant:p.D55fs

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
3 papers
NM_174878.3
p.D55fs
c.163_164fs
Surrounding Variants
7 papers
NM_174878.3
p.D55delFs
c.165delG
1 paper
NM_174878.3
p.S50_D55Fs
c.149_163delinsTGTCFs
1 paper
NM_174878.3
p.D55fs
c.163_164fs
3 papers
NM_174878.3
p.L54P
c.161T>C
1 paper
NM_174878.3
p.G59fs
c.175_176fs
1 paper
NM_174878.3
p.G59delFs
c.176delC
1 paper
NM_174878.3
p.S50_G51delFs
c.149_152del4
8 papers
NM_174878.3
p.S50_G51Fs
c.149_152delinsTGTCCAATFs
2 papers
NM_174878.3
p.G51R
c.151G>C
2 papers
NM_174878.3
p.G51R
c.151G>A
10 papers
NM_174878.3
p.S50fs
c.148_149fs
1 paper
NM_174878.3
p.M61fs
c.181_182fs
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