Varaico: Literature-Extracted Genetic Variants

Gene:TBX10
Variant:p.W27*

TBX10

51 papers

RefSeq Summary

This gene encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes inc...

Pfam Domains

T-boxaa 67–252UCSCT-box

Gene Aliases

HGNC Name

T-box transcription factor 10

HGNC Previous Symbol

TBX7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005995.5
p.W27*
c.81G>A
Surrounding Variants
1 paper
NM_005995.5
p.E28K
c.82G>A
1 paper
NM_005995.5
p.W27*
c.80G>A
1 paper
NM_005995.5
p.R30fs
c.88_89fs
1 paper
NM_005995.5
p.R30R
c.88C>A
1 paper
NM_005995.5
p.P39S
c.115C>T
1 paper
NM_005995.5
p.P39fs
c.115_116fs
1 paper
NM_005995.5
p.G10D
c.29G>A
1 paper
NM_005995.5
p.A46A
c.138C>T
1 paper
NM_005995.5
p.Q47*
c.139C>T
1 paper
NM_005995.5
p.P39_Q47delFs
c.117_139del23
1 paper
NM_005995.5
p.K58fs
c.172_173fs
1 paper
NM_005995.5
p.K58insFs
c.172_173insC
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