Varaico: Literature-Extracted Genetic Variants

SLC13A2

56 papers

RefSeq Summary

The protein encoded by this gene is a sodium-coupled citrate transporter that is regulated by the chaperone activity of cyclophilin b. The encoded protein may play a role in the formation of kidney st...

Pfam Domains

Na_sulph_sympaa 1–521UCSCSodium:sulfate symporter transmembrane region

Na_sulph_sympaa 6–565UCSCSodium:sulfate symporter transmembrane region

Gene Aliases

HGNC Name

solute carrier family 13 member 2

HGNC Alias Symbol

NaDC-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003984.4

p.F254L

c.760T>C

Surrounding Variants

2 papers

NM_003984.4

p.F254L

c.762C>A

2 papers

NM_003984.4

p.F254L

c.762C>G

1 paper

NM_003984.4

p.A241T

c.721G>A

1 paper

NM_003984.4

p.Q212delFs

c.635_636delAG

1 paper

NM_003984.4

p.N174T

c.521A>C

1 paper

NM_003984.4

p.S166R

c.498C>A

1 paper

NM_003984.4

p.S162P

c.484T>C

1 paper

NM_003984.4

p.S161R

c.481A>C

3 papers

NM_003984.4

p.T142M

c.425C>T

1 paper

NM_003984.4

p.T142A

c.424A>G

1 paper

NM_003984.4

p.A133A

c.399C>T

1 paper

NM_003984.4

p.G118R

c.352G>C