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

4 papers

NM_001098484.3

p.E122G

c.365A>G

Surrounding Variants

1 paper

NM_001098484.3

p.K126*

c.376A>T

1 paper

NM_001098484.3

p.T128S

c.382A>T

1 paper

NM_001098484.3

p.R130W

c.388A>T

1 paper

NM_001098484.3

p.E111K

c.331G>A

1 paper

NM_001098484.3

p.E111*

c.331G>T

1 paper

NM_001098484.3

p.R130Splc

c.389+25G>A

1 paper

NM_001098484.3

p.P105A

c.313C>G

1 paper

NM_001098484.3

p.S102R

c.306C>G

1 paper

NM_001098484.3

p.S102C

c.304A>T

1 paper

NM_001098484.3

p.D101G

c.302A>G

1 paper

NM_001098484.3

p.D101delFs

c.303delC

2 papers

NM_003759.4

p.R49*

c.145C>T