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

Selected Variant

1 paper

NM_031467.3

p.A182delFs

c.545delC

Surrounding Variants

1 paper

NM_031467.3

p.Q187_C188Splc

c.561+2T>G

1 paper

NM_031467.3

p.Q187_C188Splc

c.562-56T>C

1 paper

NM_031467.3

p.G169Splc

c.505+2T>A

1 paper

NM_031467.3

p.L150V

c.448T>G

1 paper

NM_031467.3

p.A149P

c.445G>C

1 paper

NM_031467.3

p.Q148H

c.444G>C

1 paper

NM_031467.3

p.E142A

c.425A>C

1 paper

NM_031467.3

p.R260W

c.778C>T

1 paper

NM_031467.3

p.R260Q

c.779G>A

1 paper

NM_031467.3

p.V264F

c.790G>T

1 paper

NM_031467.3

p.S267R

c.799A>C

1 paper

NM_031467.3

p.E114K

c.340G>A