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

1 paper

NM_003984.4

p.C38S

c.113G>C

Surrounding Variants

1 paper

NM_003984.4

p.C38S

c.112T>A

5 papers

NM_003984.4

p.L44F

c.130C>T

1 paper

NM_003984.4

p.M45L

c.133A>C

1 paper

NM_003984.4

p.M45L

c.133A>T

1 paper

NM_003984.4

p.A46V

c.137C>T

1 paper

NM_003984.4

p.F48I

c.142T>A

1 paper

NM_003984.4

p.W49C

c.147G>C

1 paper

NM_003984.4

p.W49C

c.147G>T

1 paper

NM_003984.4

p.C50S

c.148T>A

1 paper

NM_003984.4

p.C50R

c.148T>C

1 paper

NM_003984.4

p.C50S

c.149G>C

1 paper

NM_003984.4

p.F62L

c.184T>C