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

1–12 of 176 variants

9 papers

NM_001128228.3

p.A14_W18delFs

c.42_52del11

5 papers

NM_001128228.3

p.A42_S52del11

c.124_155del33

5 papers

NM_001128228.3

p.P419L

c.1256C>T

4 papers

NM_001128228.3

p.R12delFs

c.35delC

4 papers

NM_001128228.3

p.L79delFs

c.235delG

4 papers

NM_001128228.3

p.S264R

c.790A>C

4 papers

NM_001128228.3

p.S264R

c.792C>G

4 papers

NM_001128228.3

p.S264R

c.792C>A

3 papers

NM_001128228.3

p.A77T

c.229G>A

3 papers

NM_001128228.3

p.A187S

c.559G>T

3 papers

NM_001128228.3

p.V449delFs

c.1347delC

2 papers

NM_001128228.3

p.N59S

c.176A>G