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.L259P

c.776T>C

Surrounding Variants

1 paper

NM_001128228.3

p.L259F

c.775C>T

1 paper

NM_001128228.3

p.S258fs

c.772_773fs

1 paper

NM_001128228.3

p.H260P

c.779A>C

1 paper

NM_001128228.3

p.S258insFs

c.772_773insG

1 paper

NM_001128228.3

p.P262fs

c.784_785fs

4 papers

NM_001128228.3

p.S264R

c.790A>C

1 paper

NM_001128228.3

p.S254L

c.761C>T

1 paper

NM_001128228.3

p.S254*

c.761C>A

1 paper

NM_001128228.3

p.S254P

c.760T>C

4 papers

NM_001128228.3

p.S264R

c.792C>G

4 papers

NM_001128228.3

p.S264R

c.792C>A

1 paper

NM_001128228.3

p.P265T

c.793C>A