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

1 paper

NM_001128228.3

p.L56L

c.166C>T

Surrounding Variants

1 paper

NM_001128228.3

p.L56delFs

c.167delA

1 paper

NM_001128228.3

p.G54V

c.161G>T

1 paper

NM_001128228.3

p.E58D

c.174G>T

1 paper

NM_001128228.3

p.E58D

c.174G>C

1 paper

NM_001128228.3

p.L53L

c.157C>T

5 papers

NM_001128228.3

p.A42_S52del11

c.124_155del33

2 papers

NM_001128228.3

p.N59S

c.176A>G

1 paper

NM_001128228.3

p.R47Q

c.140G>A

1 paper

NM_001128228.3

p.E67Q

c.199G>C

1 paper

NM_001128228.3

p.E45K

c.133G>A

1 paper

NM_001128228.3

p.R69P

c.206G>C

1 paper

NM_001128228.3

p.R69Q

c.206G>A