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.Y500H

c.1498T>C

Surrounding Variants

1 paper

NM_003984.4

p.L499F

c.1495C>T

1 paper

NM_003984.4

p.D530G

c.1589A>G

1 paper

NM_003984.4

p.L534S

c.1601T>C

1 paper

NM_003984.4

p.M490_A491Splc

c.1470+38C>T

9 papers

NM_003984.4

p.I550V

c.1648A>G

1 paper

NM_003984.4

p.G559G

c.1677C>A

2 papers

NM_003984.4

p.V477M

c.1429G>A

1 paper

NM_003984.4

p.A572T

c.1714G>A

1 paper

NM_003984.4

p.N586_T587del1

c.1758_1760delCAC

1 paper

NM_003984.4

p.E436_R437Splc

c.1308+40T>A

1 paper

NM_003984.4

p.M417L

c.1249A>C

1 paper

NM_003984.4

p.M417L

c.1249A>T