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

13 papers

NM_001098484.3

p.R342S

c.1026A>T

NM_003759.4

p.R298S

c.894A>T

Surrounding Variants

13 papers

NM_001098484.3

p.R342S

c.1026A>C

NM_003759.4

p.R298S

c.894A>C

1 paper

NM_001098484.3

p.R342K

c.1025G>A

1 paper

NM_001098484.3

p.I340_G341insFs

c.1020_1021ins5

3 papers

NM_003759.4

p.E295K

c.883G>A

NM_001098484.3

p.E339K

c.1015G>A

1 paper

NM_001098484.3

p.H338H

c.1014C>T

1 paper

NM_001098484.3

p.L328V

c.982T>G

2 papers

NM_001098484.3

p.I326V

c.976A>G

1 paper

NM_003759.4

p.D311A

c.932A>C

1 paper

NM_001098484.3

p.G369insFs

c.1107dupT

1 paper

NM_001098484.3

p.I370fs

c.1108_1109fs

1 paper

NM_001098484.3

p.V379L

c.1135G>C

2 papers

NM_003759.4

p.R359Splc

c.1076+3A>C