Varaico: Literature-Extracted Genetic Variants

TDRD6

134 papers

RefSeq Summary

This gene encodes a tudor domain-containing protein and component of the chromatoid body, a type of ribonucleoprotein granule present in male germ cells. Studies in rodents have demonstrated a role fo...

Pfam Domains

TUDORaa 18–133UCSCTudor domain

TUDORaa 246–380UCSCTudor domain

TUDORaa 483–604UCSCTudor domain

TUDORaa 768–886UCSCTudor domain

TUDORaa 982–1102UCSCTudor domain

TUDORaa 1301–1422UCSCTudor domain

Gene Aliases

HGNC Name

tudor domain containing 6

HGNC Alias Symbols

NY-CO-45; bA446F17.4; CT41.2; SPATA36

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001010870.3

p.E1755*

c.5263G>T

Surrounding Variants

1 paper

NM_001010870.3

p.N1759S

c.5276A>G

1 paper

NM_001010870.3

p.D1748E

c.5244T>A

1 paper

NM_001010870.3

p.D1748E

c.5244T>G

1 paper

NM_001010870.3

p.R1769C

c.5305C>T

1 paper

NM_001010870.3

p.C1784F

c.5351G>T

1 paper

NM_001010870.3

p.D1786H

c.5356G>C

1 paper

NM_001010870.3

p.E1806Q

c.5416G>C

1 paper

NM_001010870.3

p.K1700fs

c.5098_5099fs

1 paper

NM_001010870.3

p.I1813T

c.5438T>C

1 paper

NM_001010870.3

p.P1838P

c.5514G>A

1 paper

NM_001010870.3

p.L1851R

c.5552T>G

1 paper

NM_001010870.3

p.S1647F

c.4940C>T