Varaico: Literature-Extracted Genetic Variants

HNF1B

880 papers

RefSeq Summary

This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nucl...

Pfam Domains

HNF-1_Naa 8–174UCSCHepatocyte nuclear factor 1 (HNF-1), N terminus

HNF-1B_Caa 288–438UCSCHepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus

Gene Aliases

HGNC Name

HNF1 homeobox B

HGNC Alias Symbols

LFB3; VHNF1; HNF1beta; MODY5; HNF1β

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_000458.4

p.R276G

c.826C>G

Surrounding Variants

25 papers

NM_000458.4

p.R276*

c.826C>T

12 papers

NM_000458.4

p.R276Q

c.827G>A

2 papers

NM_000458.4

p.Q275*

c.823C>T

1 paper

NM_000458.4

p.C273_G277ins1

c.818_829dup12

2 papers

NM_000458.4

p.C273S

c.818G>C

4 papers

NM_000458.4

p.C273Y

c.818G>A

2 papers

NM_000458.4

p.C273S

c.817T>A

1 paper

NM_000458.4

p.S279F

c.836C>T

1 paper

NM_000458.4

p.S279delFs

c.835_836delGA

1 paper

NM_000458.4

p.E272A

c.815A>C

2 papers

NM_000458.4

p.P280fs

c.838_839fs

1 paper

NM_000458.4

p.P280insFs

c.840dupC