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.V529I

c.1585G>A

Surrounding Variants

1 paper

NM_005647.4

p.F513L

c.1539C>A

1 paper

NM_005647.4

p.F513L

c.1539C>G

1 paper

NM_005647.4

p.F513L

c.1537T>C

4 papers

NM_001139468.1

p.Y458C

c.1373A>G

NM_005647.4

p.Y509C

c.1526A>G

2 papers

NM_005647.4

p.H504Y

c.1510C>T

NM_001139468.1

p.H453Y

c.1357C>T

1 paper

NM_005647.4

p.G495_C497del3

c.1483_1490del9

1 paper

NM_005647.4

p.R488*

c.1462C>T

1 paper

NM_005647.4

p.A481_F483del3

c.1441_1448del9

1 paper

NM_005647.4

p.S480_A481insGC

c.1438_1442ins6

1 paper

NM_005647.4

p.S480_A481insGCG

c.1438_1442ins9

7 papers

NM_005647.4

p.Y458C

c.1373A>G

1 paper

NM_005647.4

p.K455N

c.1365A>C