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

6 papers

NM_001174089.2

p.R739W

c.2215C>T

NM_032034.4

p.R755W

c.2263C>T

Surrounding Variants

9 papers

NM_032034.4

p.R755Q

c.2264G>A

NM_001174089.2

p.R739Q

c.2216G>A

6 papers

NM_032034.4

p.T754M

c.2261C>T

NM_001174089.2

p.T738M

c.2213C>T

2 papers

NM_001174089.2

p.I732insFs

c.2195dupT

2 papers

NM_032034.4

p.I748fs

c.2242_2243fs

NM_001174089.2

p.I732fs

c.2194_2195fs

1 paper

NM_032034.4

p.A761_S762delFs

c.2282_2285del4

2 papers

NM_032034.4

p.T747Splc

c.2241-2A>T

NM_001174089.2

p.T731Splc

c.2193-2A>T

1 paper

NM_032034.4

p.T747Splc

c.2241-4G>A

4 papers

NM_001174089.2

p.A745_V747insFs

c.2233_2240dup8

1 paper

NM_001174089.2

p.L754delFs

c.2260delA

11 papers

NM_001174089.2

p.L755L

c.2263C>T

1 paper

NM_001174089.2

p.P757L

c.2270C>T

1 paper

NM_001174089.2

p.L760F

c.2278C>T