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.R653*

c.1957C>T

Surrounding Variants

1 paper

NM_012470.4

p.P643T

c.1927C>A

1 paper

NM_012470.4

p.R667H

c.2000G>A

1 paper

NM_012470.4

p.A669T

c.2005G>A

1 paper

NM_012470.4

p.C672S

c.2014T>A

1 paper

NM_012470.4

p.C672S

c.2015G>C

1 paper

NM_012470.4

p.Q687*

c.2059C>T

1 paper

NM_012470.4

p.P633L

c.1898C>T

1 paper

NM_012470.4

p.R620W

c.1858A>T

1 paper

NM_001191028.3

p.Q623_M624Splc

c.1870-1G>T

1 paper

NM_012470.4

p.H693H

c.2079C>T

2 papers

NM_012470.4

p.R614C

c.1840C>T

1 paper

NM_012470.4

p.Q598_L612del15

c.1792_1835del45