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

2 papers

NM_001010870.3

p.E1517fs

c.4549_4550fs

Surrounding Variants

2 papers

NM_001010870.3

p.E1517insFs

c.4549_4550insA

1 paper

NM_001010870.3

p.E1517delFs

c.4550delA

1 paper

NM_001010870.3

p.M1520fs

c.4558_4559fs

1 paper

NM_001010870.3

p.M1520fs

c.4558_4559fs

1 paper

NM_001010870.3

p.V1527G

c.4580T>G

1 paper

NM_001010870.3

p.I1528T

c.4583T>C

1 paper

NM_001010870.3

p.E1542K

c.4624G>A

1 paper

NM_001010870.3

p.Q1484R

c.4451A>G

1 paper

NM_001010870.3

p.S1475N

c.4424G>A

2 papers

NM_001010870.3

p.N1563_C1564del2

c.4687_4691del6

1 paper

NM_001010870.3

p.A1470V

c.4409C>T

1 paper

NM_001010870.3

p.L1588V

c.4762C>G