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

1 paper

NM_001098484.3

p.L981L

c.2941T>C

Surrounding Variants

1 paper

NM_001098484.3

p.M979_I980Splc

c.2938-2A>C

1 paper

NM_003759.4

p.H953H

c.2859C>T

1 paper

NM_001098484.3

p.D1010N

c.3028G>A

1 paper

NM_001098484.3

p.K1021_K1023del0

c.3063_3068del6

1 paper

NM_001098484.3

p.K1020_K1021ins5

c.3058_3062ins15

1 paper

NM_003759.4

p.S982fs

c.2944_2945fs

1 paper

NM_001098484.3

p.S1029N

c.3086G>A

2 papers

NM_001098484.3

p.A973V

c.2918C>T

4 papers

NM_003759.4

p.Q913R

c.2738A>G

1 paper

NM_001098484.3

p.H951Y

c.2851C>T

2 papers

NM_001098484.3

p.R943C

c.2827C>T

1 paper

NM_001098484.3

p.P937A

c.2809C>G