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_001174089.2

p.P800L

c.2399C>T

Surrounding Variants

6 papers

NM_001174089.2

p.P800S

c.2398C>T

2 papers

NM_032034.4

p.P817fs

c.2449_2450fs

NM_001174089.2

p.P801fs

c.2401_2402fs

2 papers

NM_032034.4

p.P817delFs

c.2450delG

NM_001174089.2

p.P801delFs

c.2402delG

1 paper

NM_001174089.2

p.T797_A798del1

c.2390_2392delCAG

5 papers

NM_001174089.2

p.H803Y

c.2407C>T

2 papers

NM_032034.4

p.Q812_T813Splc

c.2437-1G>A

NM_001174089.2

p.Q796_T797Splc

c.2389-1G>A

1 paper

NM_032034.4

p.I821insFs

c.2461_2462insT

1 paper

NM_001174089.2

p.I805insFs

c.2414dupT

2 papers

NM_032034.4

p.Q812_T813Splc

c.2437-9C>T

NM_001174089.2

p.Q796_T797Splc

c.2389-9C>T

3 papers

NM_032034.4

p.V824M

c.2470G>A

NM_001174089.2

p.V808M

c.2422G>A

1 paper

NM_001174089.2

p.R807Fs

c.2420delinsGGFs

2 papers

NM_001174089.2

p.Q810P

c.2429A>C