Varaico: Literature-Extracted Genetic Variants

NF1

4,584 papers

RefSeq Summary

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leuke...

Pfam Domains

RasGAPaa 1325–1451UCSCGTPase-activator protein for Ras-like GTPase

CRAL_TRIO_2aa 1602–1736UCSCDivergent CRAL/TRIO domain

PH_NF1aa 1737–1831UCSCPH domain-like

Gene Aliases

HGNC Name

neurofibromin 1

HGNC Alias Names

neurofibromatosis; von Recklinghausen disease; Watson disease

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

70 papers

NM_001042492.3

p.R416*

c.1246C>T

Surrounding Variants

1 paper

NM_001042492.3

p.R416G

c.1246C>G

6 papers

NM_001042492.3

p.R416Q

c.1247G>A

1 paper

NM_001042492.3

p.R416P

c.1247G>C

1 paper

NM_001042492.3

p.I417delFs

c.1249delA

1 paper

NM_001042492.3

p.H415Q

c.1245T>A

2 papers

NM_001042492.3

p.H415R

c.1244A>G

1 paper

NM_001042492.3

p.I417fs

c.1249_1250fs

1 paper

NM_001042492.3

p.I417insFs

c.1250_1251insTT

1 paper

NM_001042492.3

p.I417fs

c.1249_1250fs

4 papers

NM_001042492.3

p.H415Y

c.1243C>T

1 paper

NM_001042492.3

p.H415fs

c.1243_1244fs

1 paper

NM_001042492.3

p.I417_T419delins

c.1250_1256delinsAAGA