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.E263K

c.787G>A

Surrounding Variants

1 paper

NM_005647.4

p.E263D

c.789G>C

1 paper

NM_005647.4

p.E263D

c.789G>T

1 paper

NM_005647.4

p.G267R

c.799G>A

1 paper

NM_005647.4

p.S269P

c.805T>C

1 paper

NM_005647.4

p.S254P

c.760T>C

2 papers

NM_005647.4

p.R279*

c.835C>T

1 paper

NM_005647.4

p.G250R

c.748G>A

1 paper

NM_005647.4

p.G250R

c.748G>C

2 papers

NM_005647.4

p.V235V

c.705G>A

1 paper

NM_005647.4

p.E217K

c.649G>A

1 paper

NM_005647.4

p.D215Y

c.643G>T

1 paper

NM_005647.4

p.A209T

c.625G>A