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_001174090.2

p.K371delFs

c.1112delT

Surrounding Variants

1 paper

NM_001174089.2

p.G329D

c.986G>A

1 paper

NM_001174090.2

p.K371fs

c.1111_1112fs

3 papers

NM_001174089.2

p.R331W

c.991C>T

1 paper

NM_001174089.2

p.R331Q

c.992G>A

1 paper

NM_001174089.2

p.P325S

c.973C>T

1 paper

NM_001174089.2

p.I334I

c.1002C>A

1 paper

NM_001174089.2

p.P317S

c.949C>T

2 papers

NM_032034.4

p.R353_L356del4

c.1057_1067del12

1 paper

NM_001174089.2

p.D347N

c.1039G>A

1 paper

NM_032034.4

p.P331S

c.991C>T

1 paper

NM_032034.4

p.G364Splc

c.1091-19T>C

3 papers

NM_032034.4

p.R329*

c.985A>T

NM_001174089.2

p.R313*

c.937A>T