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

2 papers

NM_001174089.2

p.R304H

c.911G>A

Surrounding Variants

1 paper

NM_001174089.2

p.K302M

c.905A>T

2 papers

NM_001174089.2

p.K302R

c.905A>G

1 paper

NM_001174090.2

p.K345*

c.1033A>T

1 paper

NM_001174089.2

p.S305_S308del4

c.913_923del12

2 papers

NM_001174089.2

p.L309P

c.926T>C

1 paper

NM_001174089.2

p.A298V

c.893C>T

5 papers

NM_001174089.2

p.S293_V297del0

c.878_889del12

1 paper

NM_032034.4

p.A327V

c.980C>T

3 papers

NM_032034.4

p.R329*

c.985A>T

NM_001174089.2

p.R313*

c.937A>T

1 paper

NM_032034.4

p.P331S

c.991C>T

1 paper

NM_001174089.2

p.Q287_L288Fs

c.859_862delinsCCTFs

1 paper

NM_001174089.2

p.R286K

c.857G>A