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.L777*

c.2330T>A

Surrounding Variants

1 paper

NM_012470.4

p.L777*

c.2330T>G

1 paper

NM_012470.4

p.S783C

c.2348C>G

1 paper

NM_012470.4

p.T784delFs

c.2350delT

1 paper

NM_012470.4

p.A791T

c.2371G>A

1 paper

NM_012470.4

p.R758Splc

c.2274-5A>G

1 paper

NM_012470.4

p.H804Y

c.2410C>T

1 paper

NM_012470.4

p.V807L

c.2419G>T

1 paper

NM_012470.4

p.V807L

c.2419G>C

1 paper

NM_012470.4

p.I803_V807del5

c.2407_2420del15

2 papers

NM_012470.4

p.R818P

c.2453G>C

8 papers

NM_012470.4

p.R818Q

c.2453G>A

2 papers

NM_012470.4

p.P847R

c.2540C>G