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

2 papers

NM_005647.4

p.N382_T383del1

c.1145_1147delACA

Surrounding Variants

1 paper

NM_005647.4

p.Q380Q

c.1140G>A

3 papers

NM_005647.4

p.T384delFs

c.1152delC

3 papers

NM_005647.4

p.F385fs

c.1153_1154fs

1 paper

NM_001139467.1

p.C342_I343ins6

c.1024_1028ins18

1 paper

NM_005647.4

p.R398K

c.1193G>A

1 paper

NM_005647.4

p.H411D

c.1231C>G

3 papers

NM_001139468.1

p.N365Y

c.1093A>T

NM_005647.4

p.N416Y

c.1246A>T

2 papers

NM_005647.4

p.A417T

c.1249G>A

NM_001139468.1

p.A366T

c.1096G>A

1 paper

NM_001139468.1

p.W369R

c.1105T>A

1 paper

NM_005647.4

p.W420R

c.1258T>C

NM_001139468.1

p.W369R

c.1105T>C

1 paper

NM_005647.4

p.S423C

c.1268C>G

1 paper

NM_005647.4

p.D433insFs

c.1299dupC