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.V428Splc

c.1282+1G>T

Surrounding Variants

1 paper

NM_001174089.2

p.L424fs

c.1270_1271fs

1 paper

NM_001174089.2

p.A420V

c.1259C>T

2 papers

NM_032034.4

p.T435I

c.1304C>T

NM_001174089.2

p.T419I

c.1256C>T

2 papers

NM_032034.4

p.T434I

c.1301C>T

1 paper

NM_001174089.2

p.I415delFs

c.1245delA

4 papers

NM_001174089.2

p.G410R

c.1228G>C

1 paper

NM_001174089.2

p.F408S

c.1223T>C

1 paper

NM_001174089.2

p.A406T

c.1216G>A

2 papers

NM_001174089.2

p.Y405Y

c.1215C>T

1 paper

NM_001174089.2

p.Y405*

c.1215C>G

1 paper

NM_001174089.2

p.V428Splc

c.1283-11C>T

4 papers

NM_032034.4

p.G418D

c.1253G>A

NM_001174089.2

p.G402D

c.1205G>A