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

8 papers

NM_001174089.2

p.G448D

c.1343G>A

NM_032034.4

p.G464D

c.1391G>A

Surrounding Variants

1 paper

NM_001174089.2

p.G448C

c.1342G>T

1 paper

NM_001174089.2

p.T447T

c.1341G>A

4 papers

NM_032034.4

p.Y460_A461delins

c.1378_1381delinsA

NM_001174089.2

p.Y444_A445delins

c.1330_1333delinsA

1 paper

NM_001174089.2

p.D434_F443del10

c.1300_1328del30

1 paper

NM_001174089.2

p.F443C

c.1328T>G

3 papers

NM_001174089.2

p.L455I

c.1363C>A

2 papers

NM_032034.4

p.L473R

c.1418T>G

NM_001174089.2

p.L457R

c.1370T>G

1 paper

NM_032034.4

p.Y474*

c.1422T>G

1 paper

NM_032034.4

p.Y474*

c.1422T>A

1 paper

NM_001174089.2

p.F461L

c.1381T>C

1 paper

NM_001174089.2

p.F460_F461delins

c.1378_1381delinsA

1 paper

NM_001174089.2

p.F461L

c.1383C>G