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.R2269fs

c.6805_6806fs

Surrounding Variants

3 papers

NM_001042492.3

p.R2269C

c.6805C>T

4 papers

NM_000267.3

p.R2248H

c.6743G>A

NM_001042492.3

p.R2269H

c.6806G>A

1 paper

NM_001042492.3

p.I2270_L2271del2

c.6808_6812del6

1 paper

NM_001042492.3

p.I2268V

c.6802A>G

2 papers

NM_001042492.3

p.I2267M

c.6801A>G

1 paper

NM_001042492.3

p.I2270_L2271insFs

c.6810_6811insAA

2 papers

NM_001042492.3

p.I2267V

c.6799A>G

NM_000267.3

p.I2246V

c.6736A>G

1 paper

NM_001042492.3

p.L2271F

c.6811C>T

1 paper

NM_001042492.3

p.S2272delFs

c.6815delG

4 papers

NM_000267.3

p.Q2245*

c.6733C>T

NM_001042492.3

p.Q2266*

c.6796C>T

1 paper

NM_000267.3

p.I2246_K2252del0

c.6736_6756del21

1 paper

NM_001042492.3

p.K2265_Q2266insFs

c.6795_6796insA