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.L972delFs

c.2914delC

Surrounding Variants

2 papers

NM_001042492.3

p.L972P

c.2915T>C

1 paper

NM_001042492.3

p.D973_N974del2

c.2917_2921del6

1 paper

NM_001042492.3

p.L971_T976del6

c.2911_2927del18

1 paper

NM_001042492.3

p.D973H

c.2917G>C

1 paper

NM_001042492.3

p.D973Y

c.2917G>T

1 paper

NM_001042492.3

p.N970fs

c.2908_2909fs

2 papers

NM_001042492.3

p.N970fs

c.2908_2909fs

1 paper

NM_001042492.3

p.K969N

c.2907G>C

1 paper

NM_001042492.3

p.K969N

c.2907G>T

2 papers

NM_001042492.3

p.N970delFs

c.2909delA

1 paper

NM_001042492.3

p.N970_L971del2

c.2908_2912del6

1 paper

NM_001042492.3

p.K969fs

c.2905_2906fs