Varaico: Literature-Extracted Genetic Variants

UMOD

419 papers

RefSeq Summary

The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl p...

Pfam Domains

EGF_3aa 32–63UCSCEGF domain

EGF_CAaa 65–106UCSCCalcium-binding EGF domain

EGF_CAaa 108–155UCSCCalcium-binding EGF domain

D8C_UMODaa 203–288UCSCUromodulin-like, D8C domain

ZP-Naa 335–428UCSCZP-N domain

Zona_pellucidaaa 452–583UCSCZP-C domain

Gene Aliases

HGNC Name

uromodulin

HGNC Previous Name

uromodulin (uromucoid, Tamm-Horsfall glycoprotein)

Papers

RefSeq ID

Protein change

DNA change

1–12 of 524 variants

27 papers

NM_003361.4

p.C126R

c.376T>C

25 papers

NM_003361.4

p.C148W

c.444T>G

22 papers

NM_003361.4

p.C77Y

c.230G>A

21 papers

NM_003361.4

p.C248W

c.744C>G

20 papers

NM_003361.4

p.N128S

c.383A>G

19 papers

NM_003361.4

p.C255Y

c.764G>A

18 papers

NM_003361.4

p.T62P

c.184A>C

18 papers

NM_003361.4

p.C150S

c.448T>A

18 papers

NM_003361.4

p.C150S

c.449G>C

16 papers

NM_003361.4

p.C106F

c.317G>T

16 papers

NM_003361.4

p.A227T

c.679G>A

15 papers

NM_003361.4

p.N76I

c.227A>T