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.A442A

c.1326C>G

Surrounding Variants

1 paper

NM_001128228.3

p.R446P

c.1337G>C

3 papers

NM_001128228.3

p.V449delFs

c.1347delC

1 paper

NM_001128228.3

p.R450T

c.1349G>C

1 paper

NM_001128228.3

p.F457L

c.1369T>C

1 paper

NM_001128228.3

p.F457L

c.1371C>G

1 paper

NM_001128228.3

p.F457L

c.1371C>A

1 paper

NM_001128228.3

p.S427L

c.1280C>T

1 paper

NM_001128228.3

p.L423L

c.1267C>T

1 paper

NM_001128228.3

p.P421H

c.1262C>A

1 paper

NM_001128228.3

p.P421S

c.1261C>T

1 paper

NM_001128228.3

p.P420L

c.1259C>T

1 paper

NM_001128228.3

p.P420S

c.1258C>T