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

1 paper

NM_001042492.3

p.T1811_M1813Fs

c.5433_5438delinsGCFs

Surrounding Variants

2 papers

NM_001042492.3

p.F1812S

c.5435T>C

1 paper

NM_001042492.3

p.L1810_T1811insFs

c.5430_5431insA

1 paper

NM_000267.3

p.L1789V

c.5365C>G

1 paper

NM_001042492.3

p.M1813I

c.5439G>C

1 paper

NM_001042492.3

p.M1813I

c.5439G>T

1 paper

NM_001042492.3

p.H1814N

c.5440C>A

6 papers

NM_001042492.3

p.H1814Y

c.5440C>T

1 paper

NM_001042492.3

p.P1809L

c.5426C>T

1 paper

NM_001042492.3

p.Q1815delFs

c.5443delC

3 papers

NM_001042492.3

p.P1809T

c.5425C>A

42 papers

NM_001042492.3

p.P1809S

c.5425C>T

1 paper

NM_001042492.3

p.P1809delFs

c.5425delC