Varaico: Literature-Extracted Genetic Variants

Gene:TBX10
Variant:p.R147C

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.R147C
c.439C>T
Surrounding Variants
1 paper
NM_005995.5
p.R147H
c.440G>A
1 paper
NM_005995.5
p.P145A
c.433C>G
1 paper
NM_005995.5
p.D153N
c.457G>A
1 paper
NM_005995.5
p.S154L
c.461C>T
1 paper
NM_005995.5
p.G138D
c.413G>A
1 paper
NM_005995.5
p.A137V
c.410C>T
1 paper
NM_005995.5
p.A137P
c.409G>C
1 paper
NM_005995.5
p.L135P
c.404T>C
1 paper
NM_005995.5
p.W134*
c.402G>A
1 paper
NM_005995.5
p.W134S
c.401G>C
1 paper
NM_005995.5
p.W134*
c.401G>A
1 paper
NM_005995.5
p.Q160R
c.479A>G
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