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.S216R

c.646A>C

Surrounding Variants

1 paper

NM_012470.4

p.S216R

c.648T>G

1 paper

NM_012470.4

p.S216R

c.648T>A

1 paper

NM_012470.4

p.D215G

c.644A>G

1 paper

NM_012470.4

p.L211V

c.631T>G

1 paper

NM_012470.4

p.D215_N221del0

c.643_663del21

2 papers

NM_012470.4

p.K200_C204del0

c.598_612del15

1 paper

NM_012470.4

p.F202_R203delFs

c.605_609del5

1 paper

NM_012470.4

p.E189*

c.565G>T

1 paper

NM_012470.4

p.L253F

c.757C>T

1 paper

NM_012470.4

p.L265S

c.794T>C

1 paper

NM_012470.4

p.Q268_L269delFs

c.803_807del5

1 paper

NM_012470.4

p.E277K

c.829G>A