Varaico: Literature-Extracted Genetic Variants

TBL1X

86 papers

RefSeq Summary

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory func...

Pfam Domains

LisHaa 57–83UCSCLisH

WD40aa 222–260UCSCWD domain, G-beta repeat

WD40aa 275–316UCSCWD domain, G-beta repeat

WD40aa 319–357UCSCWD domain, G-beta repeat

WD40aa 402–440UCSCWD domain, G-beta repeat

WD40aa 444–491UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

transducin beta like 1 X-linked

HGNC Previous Symbol

TBL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005647.4

p.D125delFs

c.373delG

Surrounding Variants

4 papers

NM_005647.4

p.T122T

c.366A>T

1 paper

NM_005647.4

p.A137T

c.409G>A

1 paper

NM_005647.4

p.Q157R

c.470A>G

1 paper

NM_005647.4

p.S160_A161insFs

c.480_481insGC

1 paper

NM_005647.4

p.S160_A161ins1

c.480_481insGCG

1 paper

NM_001139467.1

p.A114_A115ins2

c.342_343ins6

2 papers

NM_005647.4

p.A165_A166del1

c.495_497delGGC

1 paper

NM_005647.4

p.A161V

c.482C>T

1 paper

NM_005647.4

p.A165G

c.494C>G

1 paper

NM_005647.4

p.A166G

c.497C>G

1 paper

NM_005647.4

p.A166A

c.498T>G

1 paper

NM_005647.4

p.A168del1

c.502_503delGCC