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

Selected Variant

2 papers

NM_003759.4

p.E492Q

c.1474G>C

Surrounding Variants

1 paper

NM_001098484.3

p.F535L

c.1603T>C

1 paper

NM_001098484.3

p.L538F

c.1612C>T

5 papers

NM_003759.4

p.G486R

c.1456G>A

NM_001098484.3

p.G530R

c.1588G>A

5 papers

NM_003759.4

p.G486R

c.1456G>C

NM_001098484.3

p.G530R

c.1588G>C

5 papers

NM_003759.4

p.T485S

c.1454C>G

5 papers

NM_003759.4

p.T485S

c.1453A>T

2 papers

NM_003759.4

p.S484T

c.1451G>C

2 papers

NM_003759.4

p.S484C

c.1450A>T

2 papers

NM_003759.4

p.K500Splc

c.1499+1G>A

2 papers

NM_003759.4

p.S483T

c.1448G>C

3 papers

NM_003759.4

p.S483G

c.1447A>G

2 papers

NM_003759.4

p.S483C

c.1447A>T