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.E583K

c.1747G>A

Surrounding Variants

1 paper

NM_012470.4

p.R571*

c.1711C>T

1 paper

NM_012470.4

p.S606*

c.1817C>G

1 paper

NM_012470.4

p.S606*

c.1817C>A

1 paper

NM_012470.4

p.S605_T609del5

c.1813_1826del15

1 paper

NM_012470.4

p.Q598_L612del15

c.1792_1835del45

2 papers

NM_012470.4

p.R614C

c.1840C>T

1 paper

NM_012470.4

p.L541F

c.1621C>T

1 paper

NM_012470.4

p.L541fs

c.1621_1622fs

1 paper

NM_012470.4

p.G540V

c.1619G>T

1 paper

NM_012470.4

p.R531*

c.1591C>T

1 paper

NM_012470.4

p.L515fs

c.1543_1544fs

1 paper

NM_012470.4

p.L515delFs

c.1543delG