Varaico: Literature-Extracted Genetic Variants

SLC4A4

200 papers

RefSeq Summary

This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal ...

Pfam Domains

Band_3_cytoaa 106–387UCSCBand 3 cytoplasmic domain

HCO3_cotranspaa 441–1007UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 4

HGNC Alias Symbols

NBC1; HNBC1; NBC2; pNBC; hhNMC; kNBC1; KNBC; NBCe1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 283 variants

8 papers

NM_003759.4

p.S427L

c.1280C>T

8 papers

NM_003759.4

p.R881C

c.2641C>T

7 papers

NM_003759.4

p.R298S

c.894A>C

7 papers

NM_003759.4

p.R298S

c.894A>T

7 papers

NM_003759.4

p.R510H

c.1529G>A

7 papers

NM_003759.4

p.A799V

c.2396C>T

6 papers

NM_001098484.3

p.R342S

c.1026A>C

6 papers

NM_001098484.3

p.R342S

c.1026A>T

5 papers

NM_003759.4

p.Q29*

c.85C>T

5 papers

NM_003759.4

p.T485S

c.1453A>T

5 papers

NM_003759.4

p.T485S

c.1454C>G

5 papers

NM_003759.4

p.L522P

c.1565T>C