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.A286delFs

c.858delA

Surrounding Variants

1 paper

NM_031467.3

p.F271delFs

c.812delT

1 paper

NM_031467.3

p.R302Q

c.905G>A

1 paper

NM_031467.3

p.I309T

c.926T>C

1 paper

NM_031467.3

p.S267R

c.799A>C

1 paper

NM_031467.3

p.V264F

c.790G>T

1 paper

NM_031467.3

p.R260Q

c.779G>A

1 paper

NM_031467.3

p.R260W

c.778C>T

1 paper

NM_031467.3

p.R360Splc

c.1080-2A>C

1 paper

NM_031467.3

p.D368N

c.1102G>A

1 paper

NM_031467.3

p.A391P

c.1171G>C

1 paper

NM_031467.3

p.Q187_C188Splc

c.562-56T>C

1 paper

NM_031467.3

p.Q187_C188Splc

c.561+2T>G