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.D276Splc

c.827-1G>T

Surrounding Variants

4 papers

NM_175914.5

p.D276Splc

c.827-1G>A

2 papers

NM_175914.5

p.D276Splc

c.827-1G>C

1 paper

NM_000457.6

p.A299P

c.895G>C

1 paper

NM_175914.5

p.K278_S281del4

c.832_842del12

1 paper

NM_175914.5

p.G279delFs

c.835_836delGG

3 papers

NM_175914.5

p.K278N

c.834G>C

1 paper

NM_175914.5

p.G279R

c.835G>A

2 papers

NM_175914.5

p.G279R

c.835G>C

1 paper

NM_175914.5

p.G279W

c.835G>T

1 paper

NM_175914.5

p.L280L

c.838C>T

1 paper

NM_175914.5

p.L280delins

c.838_840delinsTTC

1 paper

NM_175914.5

p.L280L

c.840G>C