Varaico: Literature-Extracted Genetic Variants

HNF4A

904 papers

RefSeq Summary

The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 a...

Pfam Domains

zf-C4aa 58–127UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 172–361UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

hepatocyte nuclear factor 4 alpha

HGNC Previous Symbols

TCF14; MODY; MODY1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_175914.5

p.L315L

c.943C>T

Surrounding Variants

3 papers

NM_175914.5

p.L315P

c.944T>C

2 papers

NM_175914.5

p.L319_P320ins0

c.956_958dupTGC

4 papers

NM_175914.5

p.L319del1

c.955_956delCTG

1 paper

NM_175914.5

p.L316P

c.947T>C

1 paper

NM_175914.5

p.G313E

c.938G>A

2 papers

NM_175914.5

p.G313V

c.938G>T

1 paper

NM_175914.5

p.G313R

c.937G>A

1 paper

NM_175914.5

p.G313R

c.937G>C

1 paper

NM_175914.5

p.G313insFs

c.938dupG

1 paper

NM_175914.5

p.L317_L318insFs

c.951_954dup4

1 paper

NM_175914.5

p.L318_E331del14

c.952_992del42

2 papers

NM_001287182.2

p.L315Q

c.944T>A

NM_175914.5

p.L318Q

c.953T>A