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

5 papers

NM_005647.4

p.R339*

c.1015C>T

Surrounding Variants

1 paper

NM_005647.4

p.N342_Y343ins6

c.1024_1028ins18

1 paper

NM_005647.4

p.L345delFs

c.1034delT

1 paper

NM_005647.4

p.L345*

c.1034T>A

1 paper

NM_005647.4

p.H328_G330del3

c.982_989del9

2 papers

NM_005647.4

p.Q327_H328ins6

c.979_983ins18

1 paper

NM_005647.4

p.E317D

c.951A>C

1 paper

NM_005647.4

p.E317D

c.951A>T

2 papers

NM_005647.4

p.R279*

c.835C>T

1 paper

NM_005647.4

p.S269P

c.805T>C

1 paper

NM_005647.4

p.G267R

c.799G>A

1 paper

NM_005647.4

p.E263D

c.789G>C

1 paper

NM_005647.4

p.E263D

c.789G>T