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.I271F

c.811A>T

Surrounding Variants

12 papers

NM_175914.5

p.I271fs

c.811_812fs

1 paper

NM_175914.5

p.I271insFs

c.811dupA

2 papers

NM_175914.5

p.I271I

c.813C>T

1 paper

NM_175914.5

p.A269D

c.806C>A

1 paper

NM_175914.5

p.F273insFs

c.817dupT

3 papers

NM_175914.5

p.A269P

c.805G>C

2 papers

NM_000457.6

p.A291insFs

c.872dupC

NM_178849.3

p.A291_I292insFs

c.873_874insC

1 paper

NM_001258355.2

p.A284fs

c.850_851fs

2 papers

NM_000457.6

p.A291delFs

c.872delC

2 papers

NM_175914.5

p.F273_D274del1

c.818_820delTTG

1 paper

NM_001258355.2

p.A284insFs

c.850dupG

1 paper

NM_175914.5

p.D274G

c.821A>G