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.K1283_I1284delFs

c.3849_3850delAA

Surrounding Variants

2 papers

NM_001042492.3

p.S1282R

c.3846T>A

2 papers

NM_001042492.3

p.S1282R

c.3846T>G

3 papers

NM_001042492.3

p.K1283delFs

c.3847delA

1 paper

NM_001042492.3

p.K1283fs

c.3847_3848fs

1 paper

NM_001042492.3

p.K1283_I1284insTA

c.3847_3851ins6

1 paper

NM_001042492.3

p.K1283fs

c.3847_3848fs

1 paper

NM_001042492.3

p.S1282I

c.3845G>T

2 papers

NM_001042492.3

p.S1282R

c.3844A>C

1 paper

NM_001042492.3

p.K1283R

c.3848A>G

1 paper

NM_001042492.3

p.I1284_M1285del1

c.3852_3854delAAT

3 papers

NM_001042492.3

p.S1282fs

c.3844_3845fs

3 papers

NM_001042492.3

p.S1282_K1290delFs

c.3845_3870del26