Varaico: Literature-Extracted Genetic Variants

TNPO3

124 papers

RefSeq Summary

The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involve...

Pfam Domains

Xpo1aa 101–249UCSCExportin 1-like protein

TPR_TNPO3_IPO13_2ndaa 287–379UCSCTransportin-3/Importin-13 second TPR domain

TPR_TNPO3_IPO13_3rdaa 456–544UCSCTransportin-3/Importin-13 third TPR domain

TPR_TNPO3_IPO13_4thaa 632–736UCSCTransportin-3/Importin-13 fourth TPR domain

Gene Aliases

HGNC Name

transportin 3

HGNC Previous Symbol

LGMD1F

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012470.4

p.M119V

c.355A>G

Surrounding Variants

1 paper

NM_012470.4

p.G124R

c.370G>C

1 paper

NM_012470.4

p.G124R

c.370G>A

1 paper

NM_012470.4

p.T128S

c.382A>T

1 paper

NM_012470.4

p.Q107_L108Splc

c.321+1G>T

1 paper

NM_012470.4

p.S85C

c.254C>G

1 paper

NM_012470.4

p.S82F

c.245C>T

1 paper

NM_012470.4

p.K70R

c.209A>G

1 paper

NM_012470.4

p.A63A

c.189T>A

1 paper

NM_012470.4

p.C60*

c.180C>A

1 paper

NM_012470.4

p.Q55*

c.163C>T

1 paper

NM_012470.4

p.R54W

c.160C>T

1 paper

NM_012470.4

p.I46I

c.138C>A