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

3 papers

NM_032034.4

p.T584K

c.1751C>A

NM_001174089.2

p.T568K

c.1703C>A

Surrounding Variants

2 papers

NM_001174089.2

p.L569R

c.1706T>G

1 paper

NM_001174089.2

p.L569H

c.1706T>A

3 papers

NM_032034.4

p.G583D

c.1748G>A

NM_001174089.2

p.G567D

c.1700G>A

1 paper

NM_001174089.2

p.L569delFs

c.1705_1706delAG

1 paper

NM_001174089.2

p.M565T

c.1694T>C

1 paper

NM_001174089.2

p.M565K

c.1694T>A

1 paper

NM_001174089.2

p.W570_L571del2

c.1708_1712del6

2 papers

NM_032034.4

p.L579del1

c.1735_1737delGAG

NM_001174089.2

p.L563del1

c.1735_1736delGAG

1 paper

NM_001174089.2

p.Y573*

c.1719C>G

2 papers

NM_032034.4

p.Y589insFs

c.1766dupA

NM_001174089.2

p.Y573insFs

c.1718dupA

1 paper

NM_001174089.2

p.Y573*

c.1719C>A

2 papers

NM_001174089.2

p.G554_S561del8

c.1660_1682del24