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.D409insFs

c.1227dupC

Surrounding Variants

1 paper

NM_003984.4

p.L405F

c.1213C>T

1 paper

NM_003984.4

p.M417L

c.1249A>C

1 paper

NM_003984.4

p.M417L

c.1249A>T

1 paper

NM_003984.4

p.E436_R437Splc

c.1308+40T>A

1 paper

NM_003984.4

p.P385S

c.1153C>T

1 paper

NM_003984.4

p.E347*

c.1039G>T

1 paper

NM_003984.4

p.R346W

c.1036C>T

1 paper

NM_003984.4

p.F336C

c.1007T>G

1 paper

NM_003984.4

p.A331P

c.991G>C

1 paper

NM_003984.4

p.E318A

c.953A>C

1 paper

NM_003984.4

p.A310P

c.928G>C

2 papers

NM_003984.4

p.V477M

c.1429G>A