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.T1273fs

c.3817_3818fs

Surrounding Variants

1 paper

NM_001042492.3

p.T1273insFs

c.3817_3818ins4

15 papers

NM_001042492.3

p.L1274_F1275delFs

c.3822_3823delCT

1 paper

NM_001042492.3

p.T1273fs

c.3817_3818fs

1 paper

NM_001042492.3

p.Q1272H

c.3816G>C

1 paper

NM_001042492.3

p.Q1272H

c.3816G>T

2 papers

NM_001042492.3

p.L1274fs

c.3820_3821fs

1 paper

NM_001042492.3

p.L1274insFs

c.3821dupT

3 papers

NM_001042492.3

p.Q1272*

c.3814C>T

1 paper

NM_001042492.3

p.Q1272_T1273delFs

c.3816_3817delGA

1 paper

NM_001042492.3

p.Q1272fs

c.3814_3815fs

1 paper

NM_001042492.3

p.L1274delFs

c.3821delT

3 papers

NM_001042492.3

p.M1271I

c.3813G>A