Varaico: Literature-Extracted Genetic Variants

SLC4A9

48 papers

RefSeq Summary

The protein encoded by this gene is a membrane protein involved in anion exchange. Expression of this gene is mostly limited to the kidney. Several transcript variants encoding different isoforms have...

Pfam Domains

Band_3_cytoaa 95–204UCSCBand 3 cytoplasmic domain

Band_3_cytoaa 193–329UCSCBand 3 cytoplasmic domain

HCO3_cotranspaa 384–942UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 9

HGNC Alias Symbol

AE4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 64 variants

1 paper

NM_031467.3

p.E12K

c.34G>A

1 paper

NM_031467.3

p.P17R

c.50C>G

1 paper

NM_031467.3

p.G34D

c.101G>A

1 paper

NM_031467.3

p.G34A

c.101G>C

1 paper

NM_031467.3

p.Q59H

c.177G>C

1 paper

NM_031467.3

p.Q59H

c.177G>T

1 paper

NM_031467.3

p.L63P

c.188T>C

1 paper

NM_031467.3

p.L63R

c.188T>G

1 paper

NM_031467.3

p.L64P

c.191T>C

1 paper

NM_031467.3

p.G90S

c.268G>A

1 paper

NM_031467.3

p.R109C

c.325C>T

1 paper

NM_031467.3

p.E114K

c.340G>A