Varaico: Literature-Extracted Genetic Variants

Gene:TBX10
Variant:p.R344R

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.R344R
c.1032A>G
Surrounding Variants
1 paper
NM_005995.5
p.R344*
c.1030C>T
3 papers
NM_005995.5
p.R354Q
c.1061G>A
1 paper
NM_005995.5
p.Y331Y
c.993C>T
1 paper
NM_005995.5
p.Q328*
c.982C>T
1 paper
NM_005995.5
p.Y322*
c.966C>G
1 paper
NM_005995.5
p.Y322*
c.966C>A
1 paper
NM_005995.5
p.L310L
c.930G>A
1 paper
NM_005995.5
p.G379G
c.1137G>A
1 paper
NM_005995.5
p.D290Splc
c.869-7C>T
2 papers
NM_005995.5
p.T285I
c.854C>T
1 paper
NM_005995.5
p.G283R
c.847G>C
1 paper
NM_005995.5
p.P264L
c.791C>T
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