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

1–12 of 62 variants

9 papers

NM_003984.4

p.I550V

c.1648A>G

5 papers

NM_003984.4

p.L44F

c.130C>T

3 papers

NM_003984.4

p.T142M

c.425C>T

2 papers

NM_003984.4

p.Y82C

c.245A>G

2 papers

NM_003984.4

p.H106R

c.317A>G

2 papers

NM_003984.4

p.F254L

c.760T>C

2 papers

NM_003984.4

p.F254L

c.762C>A

2 papers

NM_003984.4

p.F254L

c.762C>G

2 papers

NM_003984.4

p.V477M

c.1429G>A

1 paper

NM_003984.4

p.I29T

c.86T>C

1 paper

NM_003984.4

p.C38S

c.112T>A

1 paper

NM_003984.4

p.C38S

c.113G>C