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.T240_A243del0

c.719_727del9

Surrounding Variants

1 paper

NM_001042492.3

p.T240A

c.718A>G

1 paper

NM_001042492.3

p.T240I

c.719C>T

1 paper

NM_001042492.3

p.T240_D241del2

c.718_722del6

1 paper

NM_001042492.3

p.T240_A243del4

c.718_728del12

6 papers

NM_001042492.3

p.Q239*

c.715C>T

2 papers

NM_001042492.3

p.D241N

c.721G>A

1 paper

NM_001042492.3

p.D241_M242ins10

c.721_725ins30

1 paper

NM_001042492.3

p.D241Y

c.721G>T

2 papers

NM_001042492.3

p.M242delFs

c.724_725delAT

1 paper

NM_001042492.3

p.D241insFs

c.723dupT

1 paper

NM_001042492.3

p.D241A

c.722A>C

1 paper

NM_001042492.3

p.P238P

c.714A>G