Varaico: Literature-Extracted Genetic Variants

SLC4A11

168 papers

RefSeq Summary

This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been a...

Pfam Domains

HCO3_cotranspaa 324–393UCSCHCO3- transporter integral membrane domain

HCO3_cotranspaa 324–874UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 11

HGNC Previous Symbols

CHED2; CDPD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032034.4

p.C170W

c.510C>G

Surrounding Variants

1 paper

NM_001400277.1

p.N134S

c.401A>G

3 papers

NM_032034.4

p.E167D

c.501G>T

NM_001174089.2

p.E151D

c.453G>T

3 papers

NM_032034.4

p.E167D

c.501G>C

NM_001174089.2

p.E151D

c.453G>C

1 paper

NM_001174089.2

p.E151K

c.451G>A

1 paper

NM_001174089.2

p.L159fs

c.475_476fs

6 papers

NM_001174089.2

p.N150S

c.449A>G

NM_032034.4

p.N166S

c.497A>G

1 paper

NM_032034.4

p.N165I

c.494A>T

1 paper

NM_001174089.2

p.L159delFs

c.475_476delAG

1 paper

NM_001174089.2

p.R145_D148delFs

c.434_443del10

2 papers

NM_001174089.2

p.L158_M160delFs

c.473_480del8

2 papers

NM_001174089.2

p.L158_A161Fs

c.473_481delinsCFs

1 paper

NM_001174089.2

p.M162T

c.485T>C