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.I847F

c.2539A>T

Surrounding Variants

2 papers

NM_003759.4

p.V802A

c.2405T>C

1 paper

NM_001098484.3

p.S848P

c.2542T>C

3 papers

NM_003759.4

p.T801S

c.2401A>T

NM_001098484.3

p.T845S

c.2533A>T

1 paper

NM_001098484.3

p.A844A

c.2532T>C

2 papers

NM_003759.4

p.A800G

c.2399C>G

3 papers

NM_003759.4

p.A799G

c.2396C>G

9 papers

NM_001098484.3

p.A843V

c.2528C>T

NM_003759.4

p.A799V

c.2396C>T

1 paper

NM_003759.4

p.A799S

c.2395G>T

2 papers

NM_003759.4

p.V798A

c.2393T>C

1 paper

NM_001098484.3

p.D853H

c.2557G>C

2 papers

NM_003759.4

p.Y797D

c.2389T>G

1 paper

NM_001098484.3

p.W840R

c.2518T>A