Varaico: Literature-Extracted Genetic Variants

SLC4A10

89 papers

RefSeq Summary

This gene belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and t...

Pfam Domains

Band_3_cytoaa 115–434UCSCBand 3 cytoplasmic domain

HCO3_cotranspaa 481–1040UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 10

HGNC Alias Symbols

NBCn2; NCBE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001178015.2

p.Q954_F955Splc

c.2863-2A>C

Surrounding Variants

1 paper

NM_001178015.2

p.F955_R958del0

c.2864_2872del9

1 paper

NM_001178015.2

p.P965L

c.2894C>T

2 papers

NM_022058.4

p.R951Q

c.2852G>A

NM_001178015.2

p.R981Q

c.2942G>A

1 paper

NM_001178015.2

p.W998R

c.2992T>A

1 paper

NM_001178015.2

p.W998R

c.2992T>C

1 paper

NM_001178015.2

p.L1025L

c.3075G>A

1 paper

NM_001178015.2

p.K1043T

c.3128A>C

1 paper

NM_001178015.2

p.L950L

c.2848C>T

1 paper

NM_001178015.2

p.T927N

c.2780C>A

1 paper

NM_001178015.2

p.F925_T927del0

c.2773_2781del9

1 paper

NM_001178015.2

p.R907W

c.2719C>T

2 papers

NM_001178015.2

p.W873*

c.2619G>A