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.P29delFs

c.85delC

Surrounding Variants

1 paper

NM_000457.6

p.A50V

c.149C>T

1 paper

NM_175914.5

p.P29L

c.86C>T

1 paper

NM_175914.5

p.A28T

c.82G>A

1 paper

NM_175914.5

p.N30delFs

c.88delA

1 paper

NM_175914.5

p.N30fs

c.88_89fs

1 paper

NM_175914.5

p.N27H

c.79A>C

1 paper

NM_175914.5

p.N30K

c.90C>A

1 paper

NM_175914.5

p.N30K

c.90C>G

1 paper

NM_175914.5

p.S31R

c.91A>C

2 papers

NM_175914.5

p.L26F

c.76C>T

7 papers

NM_175914.5

p.S31N

c.92G>A

2 papers

NM_175914.5

p.S31T

c.92G>C