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

2 papers

NM_001042492.3

p.A1294V

c.3881C>T

Surrounding Variants

1 paper

NM_001042492.3

p.A1294T

c.3880G>A

2 papers

NM_001042492.3

p.T1295_Y1296insFs

c.3884_3887dup4

13 papers

NM_001042492.3

p.T1295A

c.3883A>G

1 paper

NM_001042492.3

p.Y1292*

c.3876T>A

2 papers

NM_001042492.3

p.Y1292*

c.3876T>G

5 papers

NM_001042492.3

p.Y1292C

c.3875A>G

1 paper

NM_001042492.3

p.Y1292_G1293delFs

c.3876_3877delTG

6 papers

NM_001042492.3

p.Y1296*

c.3888T>A

6 papers

NM_001042492.3

p.Y1296*

c.3888T>G

3 papers

NM_001042492.3

p.Y1292fs

c.3874_3875fs

2 papers

NM_001042492.3

p.Y1292fs

c.3874_3875fs

1 paper

NM_001042492.3

p.Q1298_D1302del5

c.3892_3905del15