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_001174089.2

p.R145fs

c.433_434fs

Surrounding Variants

3 papers

NM_032034.4

p.R161R

c.481A>C

NM_001174089.2

p.R145R

c.433A>C

1 paper

NM_001174089.2

p.R142_R145Fs

c.425_433delinsCFs

4 papers

NM_032034.4

p.R158_A160delFs

c.473_480del8

NM_001174089.2

p.R142_A144delFs

c.425_432del8

1 paper

NM_032034.4

p.R158_A160Fs

c.473_480delinsCFs

3 papers

NM_032034.4

p.A160T

c.478G>A

NM_001174089.2

p.A144T

c.430G>A

1 paper

NM_032034.4

p.R158fs

c.472_473fs

2 papers

NM_032034.4

p.R158fs

c.472_473fs

NM_001174089.2

p.R142fs

c.424_425fs

1 paper

NM_001174089.2

p.R145_D148delFs

c.434_443del10

1 paper

NM_032034.4

p.N165I

c.494A>T

6 papers

NM_001174089.2

p.N150S

c.449A>G

NM_032034.4

p.N166S

c.497A>G

1 paper

NM_001174089.2

p.E151K

c.451G>A

3 papers

NM_032034.4

p.E167D

c.501G>T

NM_001174089.2

p.E151D

c.453G>T