Varaico: Literature-Extracted Genetic Variants

SLC67A1

51 papers

RefSeq Summary

This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been...

Pfam Domains

MFS_1aa 26–352UCSCMajor Facilitator Superfamily

MFS_1aa 145–326UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 67 member 1

HGNC Previous Symbols

IMPT1; ORCTL2; BWSCR1A; SLC22A18; SLC22A1L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002555.6

p.V248L

c.742G>T

Surrounding Variants

1 paper

NM_002555.6

p.V248L

c.742G>C

1 paper

NM_002555.6

p.G219Splc

c.655+1G>A

1 paper

NM_002555.6

p.M288_V289Splc

c.864+1G>A

1 paper

NM_002555.6

p.D212D

c.636C>T

2 papers

NM_002555.6

p.I202V

c.604A>G

1 paper

NM_002555.6

p.G179Splc

c.537-1G>T

1 paper

NM_002555.6

p.Q291*

c.871C>T

1 paper

NM_002555.6

p.Q297H

c.891G>C

1 paper

NM_002555.6

p.Q297H

c.891G>T

1 paper

NM_002555.6

p.L298L

c.892C>T

1 paper

NM_002555.6

p.M322_A323Splc

c.967-6T>C

4 papers

NM_002555.6

p.W324C

c.972G>C