Varaico: Literature-Extracted Genetic Variants

Gene:TDRD6
Variant:p.V254V

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.V254V
c.762G>A
Surrounding Variants
2 papers
NM_001010870.3
p.V250M
c.748G>A
1 paper
NM_001010870.3
p.H266N
c.796C>A
1 paper
NM_001010870.3
p.F242L
c.726C>A
1 paper
NM_001010870.3
p.F242L
c.726C>G
1 paper
NM_001010870.3
p.F242L
c.724T>C
1 paper
NM_001010870.3
p.D240_Y241delFs
c.720_723del4
1 paper
NM_001010870.3
p.V272I
c.814G>A
1 paper
NM_001010870.3
p.Q234_Y241delFs
c.701_722del22
1 paper
NM_001010870.3
p.P231Q
c.692C>A
1 paper
NM_001010870.3
p.R278C
c.832C>T
1 paper
NM_001010870.3
p.P231S
c.691C>T
1 paper
NM_001010870.3
p.V230insFs
c.688_689insA
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