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.P537P

c.1611T>C

Surrounding Variants

1 paper

NM_001010870.3

p.P539L

c.1616C>T

1 paper

NM_001010870.3

p.A527V

c.1580C>T

1 paper

NM_001010870.3

p.Y552Y

c.1656T>C

1 paper

NM_001010870.3

p.G522V

c.1565G>T

1 paper

NM_001010870.3

p.C521fs

c.1561_1562fs

2 papers

NM_001010870.3

p.A555T

c.1663G>A

2 papers

NM_001010870.3

p.C521_G522delFs

c.1563_1564delTG

2 papers

NM_001010870.3

p.R519I

c.1556G>T

1 paper

NM_001010870.3

p.R519del1

c.1555_1556delAGA

1 paper

NM_001010870.3

p.R518delins

c.1553delinsT

1 paper

NM_001010870.3

p.M517_R518delins

c.1550_1553delinsT

2 papers

NM_001010870.3

p.P499L

c.1496C>T