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

9 papers

NM_000458.4

p.L16_L17insFs

c.48_49insC

Surrounding Variants

1 paper

NM_000458.4

p.L16fs

c.46_47fs

2 papers

NM_000458.4

p.L16R

c.47T>G

3 papers

NM_000458.4

p.L16delFs

c.46delG

2 papers

NM_000458.4

p.L17V

c.49C>G

1 paper

NM_000458.4

p.L16M

c.46C>A

2 papers

NM_000458.4

p.A15V

c.44C>T

2 papers

NM_000458.4

p.A15D

c.44C>A

2 papers

NM_000458.4

p.L16del1

c.46_47delCAG

1 paper

NM_000458.4

p.S18N

c.53G>A

1 paper

NM_000458.4

p.S18S

c.54C>T

1 paper

NM_000458.4

p.S14S

c.42C>T

1 paper

NM_000458.4

p.S19F

c.56C>T