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.K455N

c.1365A>C

Surrounding Variants

1 paper

NM_005647.4

p.K455N

c.1365A>T

1 paper

NM_005647.4

p.N454fs

c.1360_1361fs

7 papers

NM_005647.4

p.Y458C

c.1373A>G

1 paper

NM_005647.4

p.H453N

c.1357C>A

7 papers

NM_005647.4

p.H453Y

c.1357C>T

1 paper

NM_005647.4

p.H453fs

c.1357_1358fs

1 paper

NM_005647.4

p.Q451fs

c.1351_1352fs

1 paper

NM_005647.4

p.L450fs

c.1348_1349fs

1 paper

NM_005647.4

p.H448N

c.1342C>A

3 papers

NM_005647.4

p.K437_I438Splc

c.1312-1G>A

1 paper

NM_005647.4

p.S480_A481insGC

c.1438_1442ins6

1 paper

NM_005647.4

p.S480_A481insGCG

c.1438_1442ins9