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.S1647F

c.4940C>T

Surrounding Variants

1 paper

NM_001010870.3

p.S1626S

c.4878G>A

1 paper

NM_001010870.3

p.K1615N

c.4845A>C

1 paper

NM_001010870.3

p.K1615N

c.4845A>T

1 paper

NM_001010870.3

p.V1598I

c.4792G>A

1 paper

NM_001010870.3

p.K1700fs

c.5098_5099fs

1 paper

NM_001010870.3

p.N1591T

c.4772A>C

1 paper

NM_001010870.3

p.L1588V

c.4762C>G

2 papers

NM_001010870.3

p.N1563_C1564del2

c.4687_4691del6

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.E1542K

c.4624G>A

1 paper

NM_001010870.3

p.E1755*

c.5263G>T