Varaico: Literature-Extracted Genetic Variants

Gene:TDRD6
Variant:p.E1328E

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.E1328E
c.3984A>G
Surrounding Variants
1 paper
NM_001010870.3
p.S1340delFs
c.4019delG
1 paper
NM_001010870.3
p.S1340fs
c.4018_4019fs
1 paper
NM_001010870.3
p.E1346K
c.4036G>A
1 paper
NM_001010870.3
p.D1366G
c.4097A>G
1 paper
NM_001010870.3
p.W1369_L1383del15
c.4105_4148del45
1 paper
NM_001010870.3
p.D1288Y
c.3862G>T
1 paper
NM_001010870.3
p.R1371C
c.4111C>T
1 paper
NM_001010870.3
p.D1286Y
c.3856G>T
1 paper
NM_001010870.3
p.S1284S
c.3852A>G
1 paper
NM_001010870.3
p.S1284*
c.3851C>A
2 papers
NM_001010870.3
p.S1284*
c.3851C>G
1 paper
NM_001010870.3
p.G1282E
c.3845G>A
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