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

19 papers

NM_000458.4

p.S36F

c.107C>T

Surrounding Variants

3 papers

NM_000458.4

p.P37insFs

c.110dupC

1 paper

NM_000458.4

p.L34L

c.102G>C

1 paper

NM_000458.4

p.L34L

c.100C>T

1 paper

NM_000458.4

p.N38K

c.114C>G

1 paper

NM_000458.4

p.N38fs

c.112_113fs

1 paper

NM_000458.4

p.N38K

c.114C>A

1 paper

NM_000458.4

p.F39V

c.115T>G

1 paper

NM_000458.4

p.L33W

c.98T>G

1 paper

NM_000458.4

p.L33S

c.98T>C

1 paper

NM_000458.4

p.L33V

c.97T>G

1 paper

NM_000458.4

p.L33L

c.97T>C

1 paper

NM_000458.4

p.A29_E32delFs

c.86_96del11