Varaico: Literature-Extracted Genetic Variants

SLC6A14

49 papers

RefSeq Summary

This gene encodes a member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and catio...

Pfam Domains

SNFaa 36–588UCSCSodium:neurotransmitter symporter family

Gene Aliases

HGNC Name

solute carrier family 6 member 14

HGNC Previous Names

solute carrier family 6 (neurotransmitter transporter), member 14; solute carrier family 6 (amino acid transporter), member 14

Papers

RefSeq ID

Protein change

DNA change

1–12 of 40 variants

2 papers

NM_007231.5

p.G103D

c.308G>A

1 paper

NM_007231.5

p.E16_K17Splc

c.48+167A>T

1 paper

NM_007231.5

p.K17K

c.51A>G

1 paper

NM_007231.5

p.V18M

c.52G>A

1 paper

NM_007231.5

p.G28G

c.84T>A

1 paper

NM_007231.5

p.N33H

c.97A>C

1 paper

NM_007231.5

p.N33K

c.99T>A

1 paper

NM_007231.5

p.N33K

c.99T>G

1 paper

NM_007231.5

p.K41Q

c.121A>C

1 paper

NM_007231.5

p.G51V

c.152G>T

1 paper

NM_007231.5

p.Y64D

c.190T>G

1 paper

NM_007231.5

p.A73V

c.218C>T