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

1–12 of 115 variants

18 papers

NM_012470.4

p.*924delFs

c.2771delT

11 papers

NM_012470.4

p.R923delFs

c.2767delG

8 papers

NM_012470.4

p.R818Q

c.2453G>A

8 papers

NM_012470.4

p.T919delFs

c.2757delG

3 papers

NM_012470.4

p.R348Q

c.1043G>A

3 papers

NM_012470.4

p.R920fs

c.2758_2759fs

3 papers

NM_012470.4

p.R923fs

c.2767_2768fs

2 papers

NM_012470.4

p.E45A

c.134A>C

2 papers

NM_012470.4

p.K200_C204del0

c.598_612del15

2 papers

NM_012470.4

p.G317S

c.949G>A

2 papers

NM_012470.4

p.R614C

c.1840C>T

2 papers

NM_012470.4

p.R818P

c.2453G>C