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

1–12 of 98 variants

7 papers

NM_005647.4

p.H453Y

c.1357C>T

7 papers

NM_005647.4

p.Y458C

c.1373A>G

5 papers

NM_005647.4

p.R339*

c.1015C>T

4 papers

NM_005647.4

p.T122T

c.366A>T

4 papers

NM_005647.4

p.Y509C

c.1526A>G

3 papers

NM_005647.4

p.T384delFs

c.1152delC

3 papers

NM_005647.4

p.F385fs

c.1153_1154fs

3 papers

NM_005647.4

p.K437_I438Splc

c.1312-1G>A

2 papers

NM_005647.4

p.Q109_Y110ins2

c.327_328ins6

2 papers

NM_005647.4

p.E119_D120Splc

c.357+1G>A

2 papers

NM_005647.4

p.A165_A166del1

c.495_497delGGC

2 papers

NM_005647.4

p.V235V

c.705G>A