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

14 papers

NM_175914.5

p.S291insFs

c.872dupC

Surrounding Variants

1 paper

NM_000457.6

p.S313P

c.937T>C

4 papers

NM_175914.5

p.S291delFs

c.872delC

1 paper

NM_175914.5

p.S291Y

c.872C>A

1 paper

NM_175914.5

p.S291F

c.872C>T

1 paper

NM_175914.5

p.Q292_V293del2

c.874_878del6

9 papers

NM_175914.5

p.R290H

c.869G>A

NM_000457.6

p.R312H

c.935G>A

1 paper

NM_175914.5

p.R290P

c.869G>C

9 papers

NM_175914.5

p.R290C

c.868C>T

NM_000457.6

p.R312C

c.934C>T

1 paper

NM_175914.5

p.V293_Q294insFs

c.878_881dup4

4 papers

NM_175914.5

p.R288R

c.864G>C

1 paper

NM_175914.5

p.R288Fs

c.864delinsCCFs

1 paper

NM_175914.5

p.L289insFs

c.865dupC