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

5 papers

NM_001042492.3

p.Q1360fs

c.4078_4079fs

Surrounding Variants

1 paper

NM_001042492.3

p.Q1360fs

c.4078_4079fs

10 papers

NM_001042492.3

p.Q1360*

c.4078C>T

2 papers

NM_001042492.3

p.P1359insFs

c.4076_4077insG

6 papers

NM_001042492.3

p.P1359delFs

c.4077delT

2 papers

NM_001042492.3

p.P1359T

c.4075C>A

1 paper

NM_001042492.3

p.L1361_R1362insFs

c.4083_4084insT

1 paper

NM_001042492.3

p.P1359delins

c.4075_4076delinsTT

1 paper

NM_001042492.3

p.P1359fs

c.4075_4076fs

1 paper

NM_001042492.3

p.L1361delFs

c.4082delT

1 paper

NM_001042492.3

p.P1358_P1359delins

c.4074_4075delinsAA

4 papers

NM_001042492.3

p.L1361R

c.4082T>G

1 paper

NM_001042492.3

p.R1362_C1365del4

c.4084_4094del12