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.F77delFs

c.230delT

Surrounding Variants

1 paper

NM_005647.4

p.F77fs

c.229_230fs

1 paper

NM_005647.4

p.E82A

c.245A>C

1 paper

NM_005647.4

p.L100P

c.299T>C

1 paper

NM_005647.4

p.I103N

c.308T>A

2 papers

NM_005647.4

p.Q109_Y110ins2

c.327_328ins6

1 paper

NM_005647.4

p.Y110del1

c.328_329delTAT

1 paper

NM_005647.4

p.E114_I115ins2

c.342_343ins6

1 paper

NM_005647.4

p.I115_N118delFs

c.343_352del10

2 papers

NM_005647.4

p.E119_D120Splc

c.357+1G>A

4 papers

NM_005647.4

p.T122T

c.366A>T

1 paper

NM_005647.4

p.D125delFs

c.373delG

1 paper

NM_005647.4

p.A137T

c.409G>A