Varaico: Literature-Extracted Genetic Variants

TPRN

111 papers

RefSeq Summary

This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have...

Pfam Domains

Phostensin_Naa 8–87UCSCPP1-regulatory protein, Phostensin N-terminal

Phostensinaa 467–598UCSCPhostensin PP1-binding and SH3-binding region

Gene Aliases

HGNC Name

taperin

HGNC Previous Symbols

C9orf75; DFNB79

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001128228.3

p.A75_L79delFs

c.225_235del11

Surrounding Variants

1 paper

NM_001128228.3

p.A75_L79insFs

c.225_235dup11

4 papers

NM_001128228.3

p.L79delFs

c.235delG

1 paper

NM_001128228.3

p.G72_L79delFs

c.214_235del22

2 papers

NM_001128228.3

p.L79fs

c.235_236fs

1 paper

NM_001128228.3

p.G76_L79insFs

c.227_237dup11

1 paper

NM_001128228.3

p.E81G

c.242A>G

3 papers

NM_001128228.3

p.A77T

c.229G>A

1 paper

NM_001128228.3

p.G76fs

c.226_227fs

1 paper

NM_001128228.3

p.G76fs

c.226_227fs

1 paper

NM_001128228.3

p.R84delFs

c.250delG

1 paper

NM_001128228.3

p.R69P

c.206G>C

1 paper

NM_001128228.3

p.R69Q

c.206G>A